Search

Your search keyword '"Simon, Michelle M."' showing total 43 results
Start Over Author "Simon, Michelle M."
43 results on '"Simon, Michelle M."'

2. Gonadal sex reversal at single-cell resolution in Znrf3-deficient mice.

Author

Kay, Raissa G. G., Reeves, Richard, Siggers, Pam, Greenaway, Simon, Mallon, Ann-Marie, Wells, Sara, Bon-Kyoung Koo, Mayère, Chloé, Nef, Serge, Greenfield, Andy, and Simon, Michelle M.

Subjects
SEX reversal, SEX determination, SERTOLI cells, GENDER identity, GRANULOSA cells, GONADS
Abstract

The role of anti-WNT ZNRF3 is central to determining gonadal fate: XY mice lacking functional ZNRF3 exhibit a highly variable gonadal sex reversal phenotype in the fetal period, characterised by appearance of ovarian tissue. To investigate this sex reversal further, we used single-cell RNA-seq to examine the transcriptomes of XY Znrf3-deficient gonads during the mouse sex-determining period. Analyses of cell trajectories in mutant gonads reveal the failure of pre-supporting cells to commit to the Sertoli cell fate, XY granulosa cell development, unstable commitment in those cells that reach the Sertoli path and enhanced contribution to a supportinglike cell fate. By developing a machine learning-based score for transcriptomic similarity to Sertoli and granulosa, we show pervasive disruption to acquisition of testicular cell fate in the mutant supporting cell lineage, with large numbers of cells co-expressing pro-Sertoli and pro-granulosa markers. These data reveal that loss of Znrf3 results in transcriptomic and cellular heterogeneity, with shifts in cellular sex identity that undermine a simple binary model in which mutant supporting cell precursors achieve either Sertoli or granulosa cell differentiation. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

6. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

Author

Bowl, Michael R, Simon, Michelle M, Ingham, Neil J, Greenaway, Simon, Santos, Luis, Cater, Heather, Taylor, Sarah, Mason, Jeremy, Kurbatova, Natalja, Pearson, Selina, Bower, Lynette R, Clary, Dave A, Meziane, Hamid, Reilly, Patrick, Minowa, Osamu, Kelsey, Lois, The International Mouse Phenotyping Consortium, Tocchini-Valentini, Glauco P, Gao, Xiang, Bradley, Allan, Skarnes, William C, Moore, Mark, Beaudet, Arthur L, Justice, Monica J, Seavitt, John, Dickinson, Mary E, Wurst, Wolfgang, de Angelis, Martin Hrabe, Herault, Yann, Wakana, Shigeharu, Nutter, Lauryl MJ, Flenniken, Ann M, McKerlie, Colin, Murray, Stephen A, Svenson, Karen L, Braun, Robert E, West, David B, Lloyd, KC Kent, Adams, David J, White, Jacqui, Karp, Natasha, Flicek, Paul, Smedley, Damian, Meehan, Terrence F, Parkinson, Helen E, Teboul, Lydia M, Wells, Sara, Steel, Karen P, Mallon, Ann-Marie, and Brown, Steve DM

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Allied Health and Rehabilitation Science, Clinical Sciences, Health Sciences, Neurosciences, Hearing Loss, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Ear, Neurological, Animals, Datasets as Topic, Genetic Testing, Hearing Tests, Mice, Mice, Knockout, Phenotype, Protein Interaction Maps, International Mouse Phenotyping Consortium
Abstract

The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function.The full extent of the genetic basis for hearing impairment is unknown. Here, as part of the International Mouse Phenotyping Consortium, the authors perform a hearing loss screen in 3006 mouse knockout strains and identify 52 new candidate genes for genetic hearing loss.

Published
2017

7. Cleft palate and minor metabolic disturbances in a mouse global Arl15 gene knockout

Author

Bai, Ying, primary, Bentley, Liz, additional, Ma, Chao, additional, Naveenan, Navaratnam, additional, Cleak, James, additional, Wu, Yixing, additional, Simon, Michelle M., additional, Westerberg, Henrik, additional, Cañas, Ramón Casero, additional, Horner, Neil, additional, Pandey, Rajesh, additional, Paphiti, Keanu, additional, Schulze, Ulrike, additional, Mianné, Joffrey, additional, Hough, Tertius, additional, Teboul, Lydia, additional, de Baaij, Jeroen H. F., additional, and Cox, Roger D., additional

Published
2023
Full Text
View/download PDF

9. Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

Author

Small, Kerrin S., Todorčević, Marijana, Civelek, Mete, El-Sayed Moustafa, Julia S., Wang, Xiao, Simon, Michelle M., Fernandez-Tajes, Juan, Mahajan, Anubha, Horikoshi, Momoko, Hugill, Alison, Glastonbury, Craig A., Quaye, Lydia, Neville, Matt J., Sethi, Siddharth, Yon, Marianne, Pan, Calvin, Che, Nam, Viñuela, Ana, Tsai, Pei-Chien, Nag, Abhishek, Buil, Alfonso, Thorleifsson, Gudmar, Raghavan, Avanthi, Ding, Qiurong, Morris, Andrew P., Bell, Jordana T., Thorsteinsdottir, Unnur, Stefansson, Kari, Laakso, Markku, Dahlman, Ingrid, Arner, Peter, Gloyn, Anna L., Musunuru, Kiran, Lusis, Aldons J., Cox, Roger D., Karpe, Fredrik, and McCarthy, Mark I.

Published
2018
Full Text
View/download PDF

10. Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

Author

Dunbar, Lucy A, Patni, Pranav, Aguilar, Carlos, Mburu, Philomena, Corns, Laura, Wells, Helena RR, Delmaghani, Sedigheh, Parker, Andrew, Johnson, Stuart, Williams, Debbie, Esapa, Christopher T, Simon, Michelle M, Chessum, Lauren, Newton, Sherylanne, Dorning, Joanne, Jeyarajan, Prashanthini, Morse, Susan, Lelli, Andrea, Codner, Gemma F, Peineau, Thibault, Gopal, Suhasini R, Alagramam, Kumar N, Hertzano, Ronna, Dulon, Didier, Wells, Sara, Williams, Frances M, Petit, Christine, Dawson, Sally J, Brown, Steve DM, Marcotti, Walter, El‐Amraoui, Aziz, and Bowl, Michael R

Published
2019
Full Text
View/download PDF

11. The Regulatory Factor ZFHX3 Modifies Circadian Function in SCN via an AT Motif-Driven Axis

Author

Parsons, Michael J., Brancaccio, Marco, Sethi, Siddharth, Maywood, Elizabeth S., Satija, Rahul, Edwards, Jessica K., Jagannath, Aarti, Couch, Yvonne, Finelli, Mattéa J., Smyllie, Nicola J., Esapa, Christopher, Butler, Rachel, Barnard, Alun R., Chesham, Johanna E., Saito, Shoko, Joynson, Greg, Wells, Sara, Foster, Russell G., Oliver, Peter L., Simon, Michelle M., Mallon, Ann-Marie, Hastings, Michael H., and Nolan, Patrick M.

Published
2015
Full Text
View/download PDF

14. Supplementary Material from Modelling the genetic aetiology of complex disease: human���mouse conservation of noncoding features and disease-associated loci

Author

Powell, George, Long, Helen, Zolkiewski, Lousia, Dumbell, Rebecca, Mallon, Ann-Marie, Lindgren, Cecilia M., and Simon, Michelle M.

Abstract

Supplementary PDF containing detailed methodology, supplementary figure 1, and supplementary tables 1 to 8 as referred to in the main manuscript.

Published
2022
Full Text
View/download PDF

16. Author Correction: Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

Author

Small, Kerrin S., Todorčević, Marijana, Civelek, Mete, El-Sayed Moustafa, Julia S., Wang, Xiao, Simon, Michelle M., Fernandez-Tajes, Juan, Mahajan, Anubha, Horikoshi, Momoko, Hugill, Alison, Glastonbury, Craig A., Quaye, Lydia, Neville, Matt J., Sethi, Siddharth, Yon, Marianne, Pan, Calvin, Che, Nam, Vinuela, Ana, Tsai, Pei-Chien, Nag, Abhishek, Buil, Alfonso, Thorleifsson, Gudmar, Raghavan, Avanthi, Ding, Qiurong, Morris, Andrew P., Bell, Jordana T., Thorsteinsdottir, Unnur, Stefansson, Kari, Laakso, Markku, Dahlman, Ingrid, Arner, Peter, Gloyn, Anna L., Musunuru, Kiran, Lusis, Aldons J., Cox, Roger D., Karpe, Fredrik, and McCarthy, Mark I.

Published
2018
Full Text
View/download PDF

19. An N‐Ethyl‐N‐Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

Author

Esapa, Christopher T, Piret, Sian E, Nesbit, M Andrew, Thomas, Gethin P, Coulton, Leslie A, Gallagher, Orla M, Simon, Michelle M, Kumar, Saumya, Mallon, Ann‐Marie, Bellantuono, Ilaria, Brown, Matthew A, Croucher, Peter I, Potter, Paul K, Brown, Steve DM, Cox, Roger D, and Thakker, Rajesh V

Subjects
DXA, PRECLINICAL STUDIES, GENETIC ANIMAL MODELS, Original Article, DISEASES AND DISORDERS OF/RELATED TO BONE, BONE QCT/µCT, Original Articles
Abstract

Kyphosis and scoliosis are common spinal disorders that occur as part of complex syndromes or as nonsyndromic, idiopathic diseases. Familial and twin studies implicate genetic involvement, although the causative genes for idiopathic kyphoscoliosis remain to be identified. To facilitate these studies, we investigated progeny of mice treated with the chemical mutagen N‐ethyl‐N‐nitrosourea (ENU) and assessed them for morphological and radiographic abnormalities. This identified a mouse with kyphoscoliosis due to fused lumbar vertebrae, which was inherited as an autosomal dominant trait; the phenotype was designated as hereditary vertebral fusion (HVF) and the locus as Hvf. Micro–computed tomography (μCT) analysis confirmed the occurrence of nonsyndromic kyphoscoliosis due to fusion of lumbar vertebrae in HVF mice, consistent with a pattern of blocked vertebrae due to failure of segmentation. μCT scans also showed the lumbar vertebral column of HVF mice to have generalized disc narrowing, displacement with compression of the neural spine, and distorted transverse processes. Histology of lumbar vertebrae revealed HVF mice to have irregularly shaped vertebral bodies and displacement of intervertebral discs and ossification centers. Genetic mapping using a panel of single nucleotide polymorphic (SNP) loci arranged in chromosome sets and DNA samples from 23 HVF (eight males and 15 females) mice, localized Hvf to chromosome 4A3 and within a 5‐megabase (Mb) region containing nine protein coding genes, two processed transcripts, three microRNAs, five small nuclear RNAs, three large intergenic noncoding RNAs, and 24 pseudogenes. However, genome sequence analysis in this interval did not identify any abnormalities in the coding exons, or exon‐intron boundaries of any of these genes. Thus, our studies have established a mouse model for a monogenic form of nonsyndromic kyphoscoliosis due to fusion of lumbar vertebrae, and further identification of the underlying genetic defect will help elucidate the molecular mechanisms involved in kyphoscoliosis. © 2018 The Authors. JBMR Plus is published by Wiley Periodicals, Inc. on behalf of the American Society for Bone and Mineral Research

Published
2018

21. Additional file 1 of A holistic view of mouse enhancer architectures reveals analogous pleiotropic effects and correlation with human disease

Author

Siddharth Sethi, Vorontsov, Ilya E., Kulakovskiy, Ivan V., Greenaway, Simon, Williams, John, Makeev, Vsevolod J., Brown, Steve D. M., Simon, Michelle M., and Ann-Marie Mallon

Abstract

Additional file 1: Figure S1. Chromatin state segmentation and characterisation across 22 mouse tissues. Figure S2. Overview of tissue-specific regulatory elements in the mouse genome. Figure S3. H3K27ac activity within SEs and TEs. Figure S4. Enrichment of chromatin marks over stitched cohesive enhancer units. Figure S5. Chromatin activity within SE and TE constituent enhancers. Figure S6. Region-gene associations of regulatory elements. Figure S7. Relationship between enhancer activity and their target gene expression. Figure S8. Impact of constituent enhancer density on target gene expression. Figure S9. Enhancer usage switch associated with genes within SEC and TEC with multiple enhancer tissue-types. Figure S10. Genomic view of genes demonstrating enhancer usage switch. Figure S11. Breadth of phenotypes associated with SE and TE gene knockouts in mouse. Figure S12. Number of eQTLs associated with genes within SEC and TEC. Figure S13. Protein-protein interaction maps of enhancer associated genes. Figure S14. Protein-protein interaction simulations. Figure S15. Transcription factor binding within SE and TE constituents. Figure S16. Performance of random forest classifiers to predict mammalian gene-phenotype associations. Figure S17. Precision and recall of classifiers used to predict gene-phenotype associations. Figure S18. Evaluation of top-scoring false-positives using the Open Targets platform. Table S1. Mammalian phenotype and human disease ontology terms enriched in genes associated with weak-enhancers.

Published
2020
Full Text
View/download PDF

22. Mouse Idh3a Mutations Cause Retinal Degeneration and Reduced Mitochondrial Function

Author

Findlay, Amy S., Carter, Roderick N., Starbuck, Becky, McKie, Lisa, Nováková, Klára, Budd, Peter S., Keighren, Margaret A., Marsh, Joseph A., Cross, Sally H., Simon, Michelle M., Potter, Paul K., Morton, Nicholas M., and Jackson, Ian J.

Subjects
Genotype, lcsh:R, Retinal Degeneration, Mutation, Missense, lcsh:Medicine, Fibroblasts, Isocitrate Dehydrogenase, Retina, Mouse model, Mitochondria, Retinitis pigmentosa, Mice, Phenotype, Loss of Function Mutation, Mutation, lcsh:Pathology, Animals, Krebs cycle, lcsh:RB1-214, Research Article, Photoreceptor Cells, Vertebrate
Abstract

Isocitrate dehydrogenase (IDH) is an enzyme required for the production of α-ketoglutarate from isocitrate. IDH3 generates the NADH used in the mitochondria for ATP production, and is a tetramer made up of two α, one β and one γ subunit. Loss-of-function and missense mutations in both IDH3A and IDH3B have previously been implicated in families exhibiting retinal degeneration. Using mouse models, we investigated the role of IDH3 in retinal disease and mitochondrial function. We identified mice with late-onset retinal degeneration in a screen of ageing mice carrying an ENU-induced mutation, E229K, in Idh3a. Mice homozygous for this mutation exhibit signs of retinal stress, indicated by GFAP staining, as early as 3 months, but no other tissues appear to be affected. We produced a knockout of Idh3a and found that homozygous mice do not survive past early embryogenesis. Idh3a−/E229K compound heterozygous mutants exhibit a more severe retinal degeneration compared with Idh3aE229K/E229K homozygous mutants. Analysis of mitochondrial function in mutant cell lines highlighted a reduction in mitochondrial maximal respiration and reserve capacity levels in both Idh3aE229K/E229K and Idh3a−/E229K cells. Loss-of-function Idh3b mutants do not exhibit the same retinal degeneration phenotype, with no signs of retinal stress or reduction in mitochondrial respiration. It has previously been reported that the retina operates with a limited mitochondrial reserve capacity and we suggest that this, in combination with the reduced reserve capacity in mutants, explains the degenerative phenotype observed in Idh3a mutant mice. This article has an associated First Person interview with the first author of the paper., Summary: Here, we show that partial loss-of-function mutations in the Idh3a gene lead to retinal degeneration due to compromised mitochondrial function. Complete loss of Idh3a, however, is embryonically lethal.

Published
2018
Full Text
View/download PDF

24. Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

Author

Gorvin, Caroline M, primary, Loh, Nellie Y, additional, Stechman, Michael J, additional, Falcone, Sara, additional, Hannan, Fadil M, additional, Ahmad, Bushra N, additional, Piret, Sian E, additional, Reed, Anita AC, additional, Jeyabalan, Jeshmi, additional, Leo, Paul, additional, Marshall, Mhairi, additional, Sethi, Siddharth, additional, Bass, Paul, additional, Roberts, Ian, additional, Sanderson, Jeremy, additional, Wells, Sara, additional, Hough, Tertius A, additional, Bentley, Liz, additional, Christie, Paul T, additional, Simon, Michelle M, additional, Mallon, Ann‐Marie, additional, Schulz, Herbert, additional, Cox, Roger D, additional, Brown, Matthew A, additional, Huebner, Norbert, additional, Brown, Steve D, additional, and Thakker, Rajesh V, additional

Published
2019
Full Text
View/download PDF

25. An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice

Author

Gorvin, Caroline M., Ahmad, Bushra N., Stechman, Michael J., Loh, Nellie Y., Hough, Tertius A., Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bentley, Liz, Piret, Sian E., Reed, Anita, Jeyabalan, Jeshmi, Christie, Paul T., Wells, Sara, Simon, Michelle M., Mallon, Ann-Marie, Schulz, Herbert, Huebner, Norbert, Brown, Matthew A., Cox, Roger D., Brown, Steve D., Thakker, Rajesh V., Gorvin, Caroline M., Ahmad, Bushra N., Stechman, Michael J., Loh, Nellie Y., Hough, Tertius A., Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bentley, Liz, Piret, Sian E., Reed, Anita, Jeyabalan, Jeshmi, Christie, Paul T., Wells, Sara, Simon, Michelle M., Mallon, Ann-Marie, Schulz, Herbert, Huebner, Norbert, Brown, Matthew A., Cox, Roger D., Brown, Steve D., and Thakker, Rajesh V.

Abstract

Renal calcification (RCALC) resulting in nephrolithiasis and nephrocalcinosis, which affects similar to 10% of adults by 70 years of age, involves environmental and genetic etiologies. Thus, nephrolithiasis and nephrocalcinosis occurs as an inherited disorder in similar to 65% of patients, and may be associated with endocrine and metabolic disorders including: primary hyperparathyroidism, hypercalciuria, renal tubular acidosis, cystinuria, and hyperoxaluria. Investigations of families with nephrolithiasis and nephrocalcinosis have identified some causative genes, but further progress is limited as large families are unavailable for genetic studies. We therefore embarked on establishing mouse models for hereditary nephrolithiasis and nephrocalcinosis by performing abdominal X-rays to identify renal opacities in N-ethyl-N-nitrosourea (ENU)-mutagenized mice. This identified a mouse with RCALC inherited as an autosomal dominant trait, designated RCALC type 2 (RCALC2). Genomewide mapping located the Rcalc2 locus to a similar to 16-Mbp region on chromosome 11D-E2 and whole-exome sequence analysis identified a heterozygous mutation in the DNA polymerase gamma-2, accessory subunit (Polg2) resulting in a nonsense mutation, Tyr265Stop (Y265X), which co-segregated with RCALC2. Kidneys of mutant mice (Polg2(+/Y265X)) had lower POLG2 mRNA and protein expression, compared to wild-type littermates (Polg2(+/+)). The Polg2(+/Y265X) and Polg2(+/+) mice had similar plasma concentrations of sodium, potassium, calcium, phosphate, chloride, urea, creatinine, glucose, and alkaline phosphatase activity; and similar urinary fractional excretion of calcium, phosphate, oxalate, and protein. Polg2 encodes the minor subunit of the mitochondrial DNA (mtDNA) polymerase and the mtDNA content in Polg2(+/Y265X) kidneys was reduced compared to Polg2(+/+) mice, and cDNA expression profiling revealed differential expression of 26 genes involved in several biological processes including mitochondrial DN

Published
2019

26. Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis

Author

Gorvin, Caroline M., Loh, Nellie Y., Stechman, Michael J., Falcone, Sara, Hannan, Fadil M., Ahmad, Bushra N., Piret, Sian E., Reed, Anita A. C., Jeyabalan, Jeshmi, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bass, Paul, Roberts, Ian, Sanderson, Jeremy, Wells, Sara, Hough, Tertius A., Bentley, Liz, Christie, Paul T., Simon, Michelle M., Mallon, Ann-Marie, Schulz, Herbert, Cox, Roger D., Brown, Matthew A., Huebner, Norbert, Brown, Steve D., Thakker, Rajesh V., Gorvin, Caroline M., Loh, Nellie Y., Stechman, Michael J., Falcone, Sara, Hannan, Fadil M., Ahmad, Bushra N., Piret, Sian E., Reed, Anita A. C., Jeyabalan, Jeshmi, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bass, Paul, Roberts, Ian, Sanderson, Jeremy, Wells, Sara, Hough, Tertius A., Bentley, Liz, Christie, Paul T., Simon, Michelle M., Mallon, Ann-Marie, Schulz, Herbert, Cox, Roger D., Brown, Matthew A., Huebner, Norbert, Brown, Steve D., and Thakker, Rajesh V.

Abstract

Nephrolithiasis (NL) and nephrocalcinosis (NC), which comprise renal calcification of the collecting system and parenchyma, respectively, have a multifactorial etiology with environmental and genetic determinants and affect similar to 10% of adults by age 70 years. Studies of families with hereditary NL and NC have identified >30 causative genes that have increased our understanding of extracellular calcium homeostasis and renal tubular transport of calcium. However, these account for <20% of the likely genes that are involved, and to identify novel genes for renal calcification disorders, we investigated 1745 12-month-old progeny from a male mouse that had been treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) for radiological renal opacities. This identified a male mouse with renal calcification that was inherited as an autosomal dominant trait with >80% penetrance in 152 progeny. The calcification consisted of calcium phosphate deposits in the renal papillae and was associated with the presence of the urinary macromolecules osteopontin and Tamm-Horsfall protein, which are features found in Randall's plaques of patients with NC. Genome-wide mapping located the disease locus to a similar to 30 Mbp region on chromosome 17A3.3-B3 and whole-exome sequence analysis identified a heterozygous mutation, resulting in a missense substitution (Met149Thr, M149T), in the bromodomain-containing protein 4 (BRD4). The mutant heterozygous (Brd4(+/M149T)) mice, when compared with wild-type (Brd4(+/+)) mice, were normocalcemic and normophosphatemic, with normal urinary excretions of calcium and phosphate, and had normal bone turnover markers. BRD4 plays a critical role in histone modification and gene transcription, and cDNA expression profiling, using kidneys from Brd4(+/M149T) and Brd4(+/+) mice, revealed differential expression of genes involved in vitamin D metabolism, cell differentiation, and apoptosis. Kidneys from Brd4(+/M149T) mice also had increased apoptosis a

Published
2019

27. An N-Ethyl-N-Nitrosourea (ENU)-Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice

Author

Gorvin, Caroline M, primary, Ahmad, Bushra N, additional, Stechman, Michael J, additional, Loh, Nellie Y, additional, Hough, Tertius A, additional, Leo, Paul, additional, Marshall, Mhairi, additional, Sethi, Siddharth, additional, Bentley, Liz, additional, Piret, Sian E, additional, Reed, Anita, additional, Jeyabalan, Jeshmi, additional, Christie, Paul T, additional, Wells, Sara, additional, Simon, Michelle M, additional, Mallon, Ann-Marie, additional, Schulz, Herbert, additional, Huebner, Norbert, additional, Brown, Matthew A, additional, Cox, Roger D, additional, Brown, Steve D, additional, and Thakker, Rajesh V, additional

Published
2018
Full Text
View/download PDF

28. Application of long single-stranded DNA donors in genome editing: generation and validation of mouse mutants

Author

Codner, Gemma F., primary, Mianné, Joffrey, additional, Caulder, Adam, additional, Loeffler, Jorik, additional, Fell, Rachel, additional, King, Ruairidh, additional, Allan, Alasdair J., additional, Mackenzie, Matthew, additional, Pike, Fran J., additional, McCabe, Christopher V., additional, Christou, Skevoulla, additional, Joynson, Sam, additional, Hutchison, Marie, additional, Stewart, Michelle E., additional, Kumar, Saumya, additional, Simon, Michelle M., additional, Agius, Loranne, additional, Anstee, Quentin M., additional, Volynski, Kirill E., additional, Kullmann, Dimitri M., additional, Wells, Sara, additional, and Teboul, Lydia, additional

Published
2018
Full Text
View/download PDF

29. AnN-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

Author

Esapa, Christopher T, primary, Piret, Sian E, additional, Nesbit, M Andrew, additional, Thomas, Gethin P, additional, Coulton, Leslie A, additional, Gallagher, Orla M, additional, Simon, Michelle M, additional, Kumar, Saumya, additional, Mallon, Ann-Marie, additional, Bellantuono, Ilaria, additional, Brown, Matthew A, additional, Croucher, Peter I, additional, Potter, Paul K, additional, Brown, Steve DM, additional, Cox, Roger D, additional, and Thakker, Rajesh V, additional

Published
2018
Full Text
View/download PDF

30. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

Author

Bowl, Michael R., Simon, Michelle M., Ingham, Neil J., Greenaway, Simon, Santos, Luis, Cater, Heather, Taylor, Sarah, Mason, Jeremy, Kurbatova, Natalja, Pearson, Selina, Bower, Lynette R., Clary, Dave A., Meziane, Hamid, Reilly, Patrick, Minowa, Osamu, Kelsey, Lois, Allen, Sue, Clementson-Mobbs, Sharon, Codner, Gemma, Fray, Martin, Gardiner, Wendy, Joynson, Russell, Kenyon, Janet, Loeffler, Jorik, Nell, Barbara, Parker, Andrew, Quwailid, Deen, Stewart, Michelle, Walling, Alison, Zaman, Rumana, Chen, Chao Kung, Conte, Nathalie, Matthews, Peter, Relac, Mike, Tudose, Ilinca, Warren, Jonathan, Le Marchand, Elise, El Amri, Amal, El Fertak, Leila, Ennah, Hamid, Ali-Hadji, Dalila, Ayadi, Abdel, Wattenhofer-Donze, Marie, Moulaert, David, Jacquot, Sylvie, André, Philippe, Birling, Marie Christine, Pavlovic, Guillaume, Lalanne, Valérie, Lux, Aline, Riet, Fabrice, Mittelhaeuser, Christophe, Bour, Raphael, Guimond, Alain, Bam'Hamed, Chaouki, Leblanc, Sophie, Vasseur, Laurent, Selloum, Mohammed, Sorg, Tania, Ayabe, Shinya, Furuse, Tamio, Kaneda, Hideki, Kobayashi, Kimio, Masuya, Hiroshi, Miura, Ikuo, Obata, Yuichi, Suzuki, Tomohiro, Tamura, Masaru, Tanaka, Nobuhiko, Yamada, Ikuko, Yoshiki, Atsushi, Berberovic, Zorana, Bubshait, Mohammed, Cabezas, Jorge, Carroll, Tracy, Clark, Greg, Clarke, Shannon, Creighton, Amie, Danisment, Ozge, Eskandarian, Mohammad, Feugas, Patricia, Gertsenstein, Marina, Guo, Ruolin, Hunter, Jane, Jacob, Elsa, Lan, Qing, Laurin, Valerie, Law, Napoleon, MacMaster, Sue, Miller, David, Morikawa, Lily, Newbigging, Susan, Owen, Celeste, Penton, Patricia, Pereira, Monica, Qu, Dawei, Shang, Xueyuan, Sleep, Gillian, Sohel, Khondoker, Tondat, Sandra, Wang, Yanchun, Vukobradovic, Igor, Zhu, Yingchun, Chiani, Francesco, Di Pietro, Chiara, Di Segni, Gianfranco, Ermakova, Olga, Ferrara, Filomena, Fruscoloni, Paolo, Gambadoro, Aalessia, Gastaldi, Serena, Golini, Elisabetta, Sala, Gina La, Mandillo, Silvia, Marazziti, Daniela, Massimi, Marzia, Matteoni, Rafaele, Orsini, Tiziana, Pasquini, Miriam, Raspa, Marcello, Rauch, Aline, Rossi, Gianfranco, Rossi, Nicoletta, Putti, Sabrina, Scavizzi, Ferdinando, Tocchini-Valentini, Giuseppe D., Beig, Joachim, Bürger, Antje, Giesert, Florian, Graw, Jochen, Kühn, Ralf, Oritz, Oskar, Schick, Joel, Seisenberger, Claudia, Amarie, Oana, Garrett, Lillian, Hölter, Sabine M., Zimprich, Annemarie, Aguilar-Pimentel, Antonio, Beckers, Johannes, Brommage, Robert, Calzada-Wack, Julia, Fuchs, Helmut, Gailus-Durner, Valérie, Lengger, Christoph, Leuchtenberger, Stefanie, Maier, Holger, Marschall, Susan, Moreth, Kristin, Neff, Frauke, Östereicher, Manuela A., Rozman, Jan, Steinkamp, Ralph, Stoeger, Claudia, Treise, Irina, Stoeger, Tobias, Yildrim, Ali Önder, Eickelberg, Oliver, Becker, Lore, Klopstock, Thomas, Ollert, Markus, Busch, Dirk H., Schmidt-Weber, Carsten, Bekeredjian, Raffi, Zimmer, Andreas, Rathkolb, Birgit, Wolf, Eckhard, Klingenspor, Martin, Tocchini-Valentini, Glauco P., Gao, Xiang, Bradley, Allan, Skarnes, William C., Moore, Mark, Beaudet, Arthur L., Justice, Monica J., Seavitt, John, Dickinson, Mary E., Wurst, Wolfgang, De Angelis, Martin Hrabe, Herault, Yann, Wakana, Shigeharu, Nutter, Lauryl M.J., Flenniken, Ann M., McKerlie, Colin, Murray, Stephen A., Svenson, Karen L., Braun, Robert E., West, David B., Lloyd, K. C.Kent, Adams, David J., White, Jacqui, Karp, Natasha, Flicek, Paul, Smedley, Damian, Meehan, Terrence F., Parkinson, Helen E., Teboul, Lydia M., Wells, Sara, Steel, Karen P., Mallon, Ann Marie, Brown, Steve D.M., Mason, Jeremy [0000-0002-2796-5123], de Angelis, Martin Hrabe [0000-0002-7898-2353], Herault, Yann [0000-0001-7049-6900], Wakana, Shigeharu [0000-0001-8532-0924], McKerlie, Colin [0000-0002-2232-0967], Lloyd, KC Kent [0000-0002-5318-4144], Flicek, Paul [0000-0002-3897-7955], Smedley, Damian [0000-0002-5836-9850], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, Cancer Research, Candidate gene, General Physics and Astronomy, Datasets as Topic, Mice, 2.1 Biological and endogenous factors, Protein Interaction Maps, Aetiology, lcsh:Science, Pediatric, Genetics, Mice, Knockout, Multidisciplinary, medicine.diagnostic_test, Hearing Tests, Ear, Phenotype, medicine.anatomical_structure, Technology Platforms, International Mouse Phenotyping Consortium, medicine.symptom, Biotechnology, Hearing Loss/epidemiology, Hearing loss, Knockout, 1.1 Normal biological development and functioning, Science, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, Clinical Research, Underpinning research, medicine, otorhinolaryngologic diseases, Auditory system, Animals, Genetic Testing, IMPC, mouse, auditory dysfunction, Set (psychology), Hearing Loss, Gene, Genetic testing, Auditory dysfunction, Human Genome, General Chemistry, 030104 developmental biology, Protein Interaction Maps/genetics, lcsh:Q
Abstract

The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function., The full extent of the genetic basis for hearing impairment is unknown. Here, as part of the International Mouse Phenotyping Consortium, the authors perform a hearing loss screen in 3006 mouse knockout strains and identify 52 new candidate genes for genetic hearing loss.

Published
2017
Full Text
View/download PDF

31. Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function

Author

Findlay, Amy S., primary, Carter, Roderick N., additional, Starbuck, Becky, additional, McKie, Lisa, additional, Nováková, Klára, additional, Budd, Peter S., additional, Keighren, Margaret A., additional, Marsh, Joseph A., additional, Cross, Sally H., additional, Simon, Michelle M., additional, Potter, Paul K., additional, Morton, Nicholas M., additional, and Jackson, Ian J., additional

Published
2018
Full Text
View/download PDF

32. A mutation in Nischarin causes otitis media via LIMK1 and NF-κB pathways

Author

Crompton, Michael, primary, Purnell, Tom, additional, Tyrer, Hayley E., additional, Parker, Andrew, additional, Ball, Greg, additional, Hardisty-Hughes, Rachel E., additional, Gale, Richard, additional, Williams, Debbie, additional, Dean, Charlotte H., additional, Simon, Michelle M., additional, Mallon, Ann-Marie, additional, Wells, Sara, additional, Bhutta, Mahmood F., additional, Burton, Martin J., additional, Tateossian, Hilda, additional, and Brown, Steve D. M., additional

Published
2017
Full Text
View/download PDF

33. An N‐Ethyl‐N‐Nitrosourea (ENU)‐Induced Tyr265Stop Mutation of the DNA Polymerase Accessory Subunit Gamma 2 (Polg2) Is Associated With Renal Calcification in Mice.

Author

Gorvin, Caroline M, Ahmad, Bushra N, Stechman, Michael J, Loh, Nellie Y, Hough, Tertius A, Leo, Paul, Marshall, Mhairi, Sethi, Siddharth, Bentley, Liz, Piret, Sian E, Reed, Anita, Jeyabalan, Jeshmi, Christie, Paul T, Wells, Sara, Simon, Michelle M, Mallon, Ann‐Marie, Schulz, Herbert, Huebner, Norbert, Brown, Matthew A, and Cox, Roger D

Abstract

Renal calcification (RCALC) resulting in nephrolithiasis and nephrocalcinosis, which affects ∼10% of adults by 70 years of age, involves environmental and genetic etiologies. Thus, nephrolithiasis and nephrocalcinosis occurs as an inherited disorder in ∼65% of patients, and may be associated with endocrine and metabolic disorders including: primary hyperparathyroidism, hypercalciuria, renal tubular acidosis, cystinuria, and hyperoxaluria. Investigations of families with nephrolithiasis and nephrocalcinosis have identified some causative genes, but further progress is limited as large families are unavailable for genetic studies. We therefore embarked on establishing mouse models for hereditary nephrolithiasis and nephrocalcinosis by performing abdominal X‐rays to identify renal opacities in N‐ethyl‐N‐nitrosourea (ENU)‐mutagenized mice. This identified a mouse with RCALC inherited as an autosomal dominant trait, designated RCALC type 2 (RCALC2). Genomewide mapping located the Rcalc2 locus to a ∼16‐Mbp region on chromosome 11D‐E2 and whole‐exome sequence analysis identified a heterozygous mutation in the DNA polymerase gamma‐2, accessory subunit (Polg2) resulting in a nonsense mutation, Tyr265Stop (Y265X), which co‐segregated with RCALC2. Kidneys of mutant mice (Polg2+/Y265X) had lower POLG2 mRNA and protein expression, compared to wild‐type littermates (Polg2+/+). The Polg2+/Y265X and Polg2+/+ mice had similar plasma concentrations of sodium, potassium, calcium, phosphate, chloride, urea, creatinine, glucose, and alkaline phosphatase activity; and similar urinary fractional excretion of calcium, phosphate, oxalate, and protein. Polg2 encodes the minor subunit of the mitochondrial DNA (mtDNA) polymerase and the mtDNA content in Polg2+/Y265X kidneys was reduced compared to Polg2+/+ mice, and cDNA expression profiling revealed differential expression of 26 genes involved in several biological processes including mitochondrial DNA function, apoptosis, and ubiquitination, the complement pathway, and inflammatory pathways. In addition, plasma of Polg2+/Y265X mice, compared to Polg2+/+ littermates had higher levels of reactive oxygen species. Thus, our studies have identified a mutant mouse model for inherited renal calcification associated with a Polg2 nonsense mutation. © 2018 The Authors. Journal of Bone and Mineral Research Published by Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

34. A mutation in Nischarin causes otitis media via LIMK1 and NF-κB pathways

Author

Justice, Monica J., Crompton, Michael, Purnell, Tom, Tyrer, Hayley, Parker, Andrew, Ball, Greg, Hardisty-Hughes, Rachel E., Gale, Richard, Williams, Debbie, Dean, Charlotte H., Simon, Michelle M., Mallon, Ann-Marie, Wells, Sara, Bhutta, Mahmood F., Burton, Martin J., Tateossian, Hilda, Brown, Steve D. M., Justice, Monica J., Crompton, Michael, Purnell, Tom, Tyrer, Hayley, Parker, Andrew, Ball, Greg, Hardisty-Hughes, Rachel E., Gale, Richard, Williams, Debbie, Dean, Charlotte H., Simon, Michelle M., Mallon, Ann-Marie, Wells, Sara, Bhutta, Mahmood F., Burton, Martin J., Tateossian, Hilda, and Brown, Steve D. M.

Abstract

Otitis media (OM), inflammation of the middle ear (ME), is a common cause of conductive hearing impairment. Despite the importance of the disease, the aetiology of chronic and recurrent forms of middle ear inflammatory disease remains poorly understood. Studies of the human population suggest that there is a significant genetic component predisposing to the development of chronic OM, although the underlying genes are largely unknown. Using N-ethyl-N-nitrosourea mutagenesis we identified a recessive mouse mutant, edison, that spontaneously develops a conductive hearing loss due to chronic OM. The causal mutation was identified as a missense change, L972P, in the Nischarin (NISCH) gene. edison mice develop a serous or granulocytic effusion, increasingly macrophage and neutrophil rich with age, along with a thickened, inflamed mucoperiosteum. We also identified a second hypomorphic allele, V33A, with only modest increases in auditory thresholds and reduced incidence of OM. NISCH interacts with several proteins, including ITGA5 that is thought to have a role in modulating VEGF-induced angiogenesis and vascularization. We identified a significant genetic interaction between Nisch and Itga5; mice heterozygous for Itga5-null and homozygous for edison mutations display a significantly increased penetrance and severity of chronic OM. In order to understand the pathological mechanisms underlying the OM phenotype, we studied interacting partners to NISCH along with downstream signalling molecules in the middle ear epithelia of edison mouse. Our analysis implicates PAK1 and RAC1, and downstream signalling in LIMK1 and NF-κB pathways in the development of chronic OM.

Published
2017

35. Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

Author

Potter, Paul K., primary, Bowl, Michael R., additional, Jeyarajan, Prashanthini, additional, Wisby, Laura, additional, Blease, Andrew, additional, Goldsworthy, Michelle E., additional, Simon, Michelle M., additional, Greenaway, Simon, additional, Michel, Vincent, additional, Barnard, Alun, additional, Aguilar, Carlos, additional, Agnew, Thomas, additional, Banks, Gareth, additional, Blake, Andrew, additional, Chessum, Lauren, additional, Dorning, Joanne, additional, Falcone, Sara, additional, Goosey, Laurence, additional, Harris, Shelley, additional, Haynes, Andy, additional, Heise, Ines, additional, Hillier, Rosie, additional, Hough, Tertius, additional, Hoslin, Angela, additional, Hutchison, Marie, additional, King, Ruairidh, additional, Kumar, Saumya, additional, Lad, Heena V., additional, Law, Gemma, additional, MacLaren, Robert E., additional, Morse, Susan, additional, Nicol, Thomas, additional, Parker, Andrew, additional, Pickford, Karen, additional, Sethi, Siddharth, additional, Starbuck, Becky, additional, Stelma, Femke, additional, Cheeseman, Michael, additional, Cross, Sally H., additional, Foster, Russell G., additional, Jackson, Ian J., additional, Peirson, Stuart N., additional, Thakker, Rajesh V., additional, Vincent, Tonia, additional, Scudamore, Cheryl, additional, Wells, Sara, additional, El-Amraoui, Aziz, additional, Petit, Christine, additional, Acevedo-Arozena, Abraham, additional, Nolan, Patrick M., additional, Cox, Roger, additional, Mallon, Anne-Marie, additional, and Brown, Steve D. M., additional

Published
2016
Full Text
View/download PDF

36. Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair

Author

Mianné, Joffrey, primary, Chessum, Lauren, additional, Kumar, Saumya, additional, Aguilar, Carlos, additional, Codner, Gemma, additional, Hutchison, Marie, additional, Parker, Andrew, additional, Mallon, Ann-Marie, additional, Wells, Sara, additional, Simon, Michelle M., additional, Teboul, Lydia, additional, Brown, Steve D. M., additional, and Bowl, Michael R., additional

Published
2016
Full Text
View/download PDF

37. Discovering gene function from development to ageing

Author

Potter, Paul K., primary, Laura, Wisby, additional, Blease, Andrew, additional, Simon, Michelle M., additional, Aguilar, Carlos, additional, Agnew, Thomas, additional, Banks, Gareth, additional, Blake, Andrew, additional, Chessum, Lauren, additional, Dorning, Joanne, additional, Falcone, Sara, additional, Goosey, Laurence, additional, Greenaway, Simon, additional, Harris, Shelley, additional, Haynes, Andrew, additional, Heise, Ines, additional, Hillier, Rosie, additional, Hough, Tertius, additional, Hoslin, Angela, additional, Hutchison, Marie, additional, King, Ruairidh, additional, Kumar, Saumya, additional, Lad, Heena, additional, Law, Gemma, additional, Morse, Susan, additional, Nicol, Thomas, additional, Parker, Andrew, additional, Pickford, Karen, additional, Sethi, Siddharth, additional, Shanthakumar, Prashanthini, additional, Starbuck, Becky, additional, Cheeseman, Michael, additional, Cross, Sally H., additional, Foster, Russell G., additional, Goldsworthy, Michelle E., additional, Jackson, Ian J., additional, Pierson, Stuart N., additional, Thakker, Rajesh V., additional, Vincent, Tonia, additional, Scudamore, Cheryl, additional, Wells, Sara, additional, Acevedo-Arozena, Abraham, additional, Nolan, Patrick M., additional, Cox, Roger, additional, Mallon, Anne-Marie, additional, Bowl, Michael R., additional, and Brown, Steve D.M., additional

Published
2015
Full Text
View/download PDF

39. Regulatory variants at KLF14influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

Author

Small, Kerrin S., Todorčević, Marijana, Civelek, Mete, El-Sayed Moustafa, Julia S., Wang, Xiao, Simon, Michelle M., Fernandez-Tajes, Juan, Mahajan, Anubha, Horikoshi, Momoko, Hugill, Alison, Glastonbury, Craig A., Quaye, Lydia, Neville, Matt J., Sethi, Siddharth, Yon, Marianne, Pan, Calvin, Che, Nam, Viñuela, Ana, Tsai, Pei-Chien, Nag, Abhishek, Buil, Alfonso, Thorleifsson, Gudmar, Raghavan, Avanthi, Ding, Qiurong, Morris, Andrew P., Bell, Jordana T., Thorsteinsdottir, Unnur, Stefansson, Kari, Laakso, Markku, Dahlman, Ingrid, Arner, Peter, Gloyn, Anna L., Musunuru, Kiran, Lusis, Aldons J., Cox, Roger D., Karpe, Fredrik, and McCarthy, Mark I.

Abstract

Individual risk of type 2 diabetes (T2D) is modified by perturbations to the mass, distribution and function of adipose tissue. To investigate the mechanisms underlying these associations, we explored the molecular, cellular and whole-body effects of T2D-associated alleles near KLF14. We show that KLF14diabetes-risk alleles act in adipose tissue to reduce KLF14expression and modulate, in trans, the expression of 385 genes. We demonstrate, in human cellular studies, that reduced KLF14expression increases pre-adipocyte proliferation but disrupts lipogenesis, and in mice, that adipose tissue–specific deletion of Klf14partially recapitulates the human phenotype of insulin resistance, dyslipidemia and T2D. We show that carriers of the KLF14T2D risk allele shift body fat from gynoid stores to abdominal stores and display a marked increase in adipocyte cell size, and that these effects on fat distribution, and the T2D association, are female specific. The metabolic risk associated with variation at this imprinted locus depends on the sex both of the subject and of the parent from whom the risk allele derives.

Published
2018
Full Text
View/download PDF

40. Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations

Author

Bull, Katherine R, Rimmer, Andrew J, Siggs, Owen M, Miosge, Lisa A, Roots, Carla M, Enders, Anselm, Bertram, Edward M, Crockford, Tanya L, Whittle, Belinda, Potter, Paul K, Simon, Michelle M, Mallon, Ann-Marie, Brown, Steve D M, Beutler, Bruce, Goodnow, Christopher C, Lunter, Gerton, Cornall, Richard J, Bull, Katherine R, Rimmer, Andrew J, Siggs, Owen M, Miosge, Lisa A, Roots, Carla M, Enders, Anselm, Bertram, Edward M, Crockford, Tanya L, Whittle, Belinda, Potter, Paul K, Simon, Michelle M, Mallon, Ann-Marie, Brown, Steve D M, Beutler, Bruce, Goodnow, Christopher C, Lunter, Gerton, and Cornall, Richard J

Abstract

Forward genetics screens with N-ethyl-N-nitrosourea (ENU) provide a powerful way to illuminate gene function and generate mouse models of human disease; however, the identification of causative mutations remains a limiting step. Current strategies depend on conventional mapping, so the propagation of affected mice requires non-lethal screens; accurate tracking of phenotypes through pedigrees is complex and uncertain; out-crossing can introduce unexpected modifiers; and Sanger sequencing of candidate genes is inefficient. Here we show how these problems can be efficiently overcome using whole-genome sequencing (WGS) to detect the ENU mutations and then identify regions that are identical by descent (IBD) in multiple affected mice. In this strategy, we use a modification of the Lander-Green algorithm to isolate causative recessive and dominant mutations, even at low coverage, on a pure strain background. Analysis of the IBD regions also allows us to calculate the ENU mutation rate (1.54 mutations per Mb) and to model future strategies for genetic screens in mice. The introduction of this approach will accelerate the discovery of causal variants, permit broader and more informative lethal screens to be used, reduce animal costs, and herald a new era for ENU mutagenesis.

Published
2013

41. Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations

Author

Bull, Katherine R., primary, Rimmer, Andrew J., additional, Siggs, Owen M., additional, Miosge, Lisa A., additional, Roots, Carla M., additional, Enders, Anselm, additional, Bertram, Edward M., additional, Crockford, Tanya L., additional, Whittle, Belinda, additional, Potter, Paul K., additional, Simon, Michelle M., additional, Mallon, Ann-Marie, additional, Brown, Steve D. M., additional, Beutler, Bruce, additional, Goodnow, Christopher C., additional, Lunter, Gerton, additional, and Cornall, Richard J., additional

Published
2013
Full Text
View/download PDF

42. A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

Author

Simon, Michelle M, primary, Greenaway, Simon, additional, White, Jacqueline K, additional, Fuchs, Helmut, additional, Gailus-Durner, Valérie, additional, Wells, Sara, additional, Sorg, Tania, additional, Wong, Kim, additional, Bedu, Elodie, additional, Cartwright, Elizabeth J, additional, Dacquin, Romain, additional, Djebali, Sophia, additional, Estabel, Jeanne, additional, Graw, Jochen, additional, Ingham, Neil J, additional, Jackson, Ian J, additional, Lengeling, Andreas, additional, Mandillo, Silvia, additional, Marvel, Jacqueline, additional, Meziane, Hamid, additional, Preitner, Frédéric, additional, Puk, Oliver, additional, Roux, Michel, additional, Adams, David J, additional, Atkins, Sarah, additional, Ayadi, Abdel, additional, Becker, Lore, additional, Blake, Andrew, additional, Brooker, Debra, additional, Cater, Heather, additional, Champy, Marie-France, additional, Combe, Roy, additional, Danecek, Petr, additional, di Fenza, Armida, additional, Gates, Hilary, additional, Gerdin, Anna-Karin, additional, Golini, Elisabetta, additional, Hancock, John M, additional, Hans, Wolfgang, additional, Hölter, Sabine M, additional, Hough, Tertius, additional, Jurdic, Pierre, additional, Keane, Thomas M, additional, Morgan, Hugh, additional, Müller, Werner, additional, Neff, Frauke, additional, Nicholson, George, additional, Pasche, Bastian, additional, Roberson, Laura-Anne, additional, Rozman, Jan, additional, Sanderson, Mark, additional, Santos, Luis, additional, Selloum, Mohammed, additional, Shannon, Carl, additional, Southwell, Anne, additional, Tocchini-Valentini, Glauco P, additional, Vancollie, Valerie E, additional, Westerberg, Henrik, additional, Wurst, Wolfgang, additional, Zi, Min, additional, Yalcin, Binnaz, additional, Ramirez-Solis, Ramiro, additional, Steel, Karen P, additional, Mallon, Ann-Marie, additional, de Angelis, Martin, additional, Herault, Yann, additional, and Brown, Steve DM, additional

Published
2013
Full Text
View/download PDF

43. Author Correction: Regulatory variants at KLF14influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition

Author

Small, Kerrin S., Todorcevic, Marijana, Civelek, Mete, El-Sayed Moustafa, Julia S., Wang, Xiao, Simon, Michelle M., Fernandez-Tajes, Juan, Mahajan, Anubha, Horikoshi, Momoko, Hugill, Alison, Glastonbury, Craig A., Quaye, Lydia, Neville, Matt J., Sethi, Siddharth, Yon, Marianne, Pan, Calvin, Che, Nam, Vinuela, Ana, Tsai, Pei-Chien, Nag, Abhishek, Buil, Alfonso, Thorleifsson, Gudmar, Raghavan, Avanthi, Ding, Qiurong, Morris, Andrew P., Bell, Jordana T., Thorsteinsdottir, Unnur, Stefansson, Kari, Laakso, Markku, Dahlman, Ingrid, Arner, Peter, Gloyn, Anna L., Musunuru, Kiran, Lusis, Aldons J., Cox, Roger D., Karpe, Fredrik, and McCarthy, Mark I.

Abstract

In the version of this article originally published, minus signs were missing from the three ß-values for BMI given in Table 1. The errors have been corrected in the HTML and PDF versions of the article.

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results