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102 results on '"Saraiva, Jorge M. A."'

1. Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature

Author

Amato, Maria Eugenia, Balsells, Sol, Martorell, Loreto, Alcalá San Martín, Adrián, Ansell, Karen, Børresen, Malene Landbo, Johnson, Heather, Korff, Christian, Garcia-Tarodo, Stephanie, Lefranc, Jeremie, Denommé-Pichon, Anne-Sophie, Sarrazin, Elisabeth, Szabo, Nora Zsuzsanna, Saraiva, Jorge M., Wicher, Dorota, Goverde, Anne, Bindels-de Heus, Karen G.C.B., Barakat, Tahsin Stefan, and Ortigoza-Escobar, Juan Darío

Published
2024
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4. Schimke immunoosseous dysplasia: defining skeletal features

Author

Hunter, Kshamta B., Lücke, Thomas, Spranger, Jürgen, Smithson, Sarah F., Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Bogdanovic, Radovan, Bonneau, Dominique, Cairns, Robyn, Cransberg, Karlien, Fründ, Stefan, Fryssira, Helen, Goodman, David, Helmke, Knut, Hinkelmann, Barbara, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Mayfield, Christy, Pontz, Bertram F., Rusu, Cristina, Saraiva, Jorge M., Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Stajic, Natasa, Taha, Doris, and Boerkoel, Cornelius F.

Published
2010
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15. Schimke Immunoosseous Dysplasia: Suggestions of Genetic Diversity

Author

Clewing, Marietta J., Fryssira, Helen, Goodman, David, Smithson, Sarah F., Sloan, Emily A., Lou, Shu, Huang, Yan, Choi, Kunho, Lücke, Thomas, Alpay, Harika, André, Jean-Luc, Asakura, Yumi, Biebuyck-Gouge, Nathalie, Bogdanovic, Radovan, Bonneau, Dominique, Cancrini, Caterina, Cochat, Pierre, Cockfield, Sandra, Collard, Laure, Cordeiro, Isabel, Cormier-Daire, Valerie, Cransberg, Karlien, Cutka, Karel, Deschenes, Georges, Ehrich, Jochen H.H., Fründ, Stefan, Georgaki, Helen, Guillen-Navarro, Encarna, Hinkelmann, Barbara, Kanariou, Maria, Kasap, Belde, Kilic, Sara Sebnem, Lama, Guiliana, Lamfers, Petra, Loirat, Chantal, Majore, Silvia, Milford, David, Morin, Denis, Özdemir, Nihal, Pontz, Bertram F., Proesmans, Willem, Psoni, Stavroula, Reichenbach, Herbert, Reif, Silke, Rusu, Cristina, Saraiva, Jorge M., Sakallioglu, Onur, Schmidt, Beate, Shoemaker, Lawrence, Sigaudy, Sabine, Smith, Graham, Sotsiou, Flora, Stajic, Natasa, Stein, Anja, Stray-Pedersen, Asbjrg, Taha, Doris, Taque, Sophie, Tizard, Jane, Tsimaratos, Michel, Wong, Newton A.C.S., and Boerkoel, Cornelius F.

Published
2007
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19. Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Author

Morimoto Marie, Yu Zhongxin, Stenzel Peter, Clewing J, Najafian Behzad, Mayfield Christy, Hendson Glenda, Weinkauf Justin G, Gormley Andrew K, Parham David M, Ponniah Umakumaran, André Jean-Luc, Asakura Yumi, Basiratnia Mitra, Bogdanović Radovan, Bokenkamp Arend, Bonneau Dominique, Buck Anna, Charrow Joel, Cochat Pierre, Cordeiro Isabel, Deschenes Georges, Fenkçi M, Frange Pierre, Fründ Stefan, Fryssira Helen, Guillen-Navarro Encarna, Keller Kory, Kirmani Salman, Kobelka Christine, Lamfers Petra, Levtchenko Elena, Lewis David B, Massella Laura, McLeod D, Milford David V, Nobili François, Saraiva Jorge M, Semerci C, Shoemaker Lawrence, Stajić Nataša, Stein Anja, Taha Doris, Wand Dorothea, Zonana Jonathan, Lücke Thomas, and Boerkoel Cornelius F

Subjects
Schimke immuno-osseous dysplasia, SMARCAL1, Elastin, Vascular disease, Pulmonary emphysema, Medicine
Abstract

Abstract Background Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown. Methods We reviewed the records of 65 patients with SMARCAL1 mutations. Molecular and immunohistochemical analyses were conducted on autopsy tissue from 4 SIOD patients. Results Thirty-two of 63 patients had signs of arteriosclerosis and 3 of 51 had signs of emphysema. The arteriosclerosis was characterized by intimal and medial hyperplasia, smooth muscle cell hyperplasia and fragmented and disorganized elastin fibers, and the pulmonary disease was characterized by panlobular enlargement of air spaces. Consistent with a cell autonomous disorder, SMARCAL1 was expressed in arterial and lung tissue, and both the aorta and lung of SIOD patients had reduced expression of elastin and alterations in the expression of regulators of elastin gene expression. Conclusions This first comprehensive study of the vascular and pulmonary complications of SIOD shows that these commonly cause morbidity and mortality and might arise from impaired elastogenesis. Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD.

Published
2012
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22. BRUGADA SYNDROME: A 9 YEAR RETROSPECTIVE ANALYSIS

Author

Lopes-de-Almeida, Maria, Sá, Joaquim de, Carminho, Teresa, Rosmaninho-Salgado, Joana, Carvalho, Ana L, Louro, Pedro, Garabal, Ana, Reis, Cláudia F, Oliveira, Renata, Maia, Sofia, Ramos, Fabiana, Sousa, Sérgio B, Venâncio, Margarida, Ramos, Lina, and Saraiva, Jorge M

Subjects
lcsh:RJ1-570, lcsh:Pediatrics, lcsh:Gynecology and obstetrics, lcsh:RG1-991
Abstract

NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, Vol 25 (2016): Supplement I: XLV Conferências de Genética Doutor Jacinto Magalhães

Published
2016

25. Cromossomopatia com Cariotipo Normal em Linfócitos: Caso Clínico

Author

Saraiva, Jorge M., Matoso, Eunice, Garcia, Paula, Bento, Gisela, Diogo, Luísa, and Marques, Isabel

Subjects
lcsh:R5-920, Trissomia 22 - mosaicismo - hemiatrofia, lcsh:RJ1-570, lcsh:Pediatrics, lcsh:Medicine (General)
Abstract

A trissomia 22 em mosaico é uma cromossomopatia particularmente rara de que foram publicados apenas 10 casos, dois dos quais do sexo masculino. Descrevemos o terceiro caso desta situação numa criança de um ano de idade. Referimos as circunstâncias em que um estudo citogenético normal não permite excluir o diagnóstico de cromossomopatia., Portuguese Journal of Pediatrics, Vol 34 No 4 (2003)

Published
2014

27. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

Author

White, Janson, Mazzeu, Juliana F, Hoischen, Alexander, Jhangiani, Shalini N, Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M, Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T, Steehouwer, Marloes, Muzny, Donna M, Sutton, V Reid, Gibbs, Richard A, Lupski, James R, Brunner, Han G, van Bon, Bregje W M, Carvalho, Claudia M B, White, Janson, Mazzeu, Juliana F, Hoischen, Alexander, Jhangiani, Shalini N, Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M, Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T, Steehouwer, Marloes, Muzny, Donna M, Sutton, V Reid, Gibbs, Richard A, Lupski, James R, Brunner, Han G, van Bon, Bregje W M, and Carvalho, Claudia M B

Abstract

Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features and for which both autosomal-recessive and autosomal-dominant inheritance patterns have been described. Causative variants in the non-canonical signaling gene WNT5A underlie a subset of autosomal-dominant Robinow syndrome (DRS) cases, but most individuals with DRS remain without a molecular diagnosis. We performed whole-exome sequencing in four unrelated DRS-affected individuals without coding mutations in WNT5A and found heterozygous DVL1 exon 14 mutations in three of them. Targeted Sanger sequencing in additional subjects with DRS uncovered DVL1 exon 14 mutations in five individuals, including a pair of monozygotic twins. In total, six distinct frameshift mutations were found in eight subjects, and all were heterozygous truncating variants within the penultimate exon of DVL1. In five families in which samples from unaffected parents were available, the variants were demonstrated to represent de novo mutations. All variant alleles are predicted to result in a premature termination codon within the last exon, escape nonsense-mediated decay (NMD), and most likely generate a C-terminally truncated protein with a distinct -1 reading-frame terminus. Study of the transcripts extracted from affected subjects' leukocytes confirmed expression of both wild-type and variant alleles, supporting the hypothesis that mutant mRNA escapes NMD. Genomic variants identified in our study suggest that truncation of the C-terminal domain of DVL1, a protein hypothesized to have a downstream role in the Wnt-5a non-canonical pathway, is a common cause of DRS.

Published
2015

28. Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Author

Morimoto, Marie Yu, Zhongxin Stenzel, Peter Clewing, J. Marietta Najafian, Behzad Mayfield, Christy Hendson, Glenda and Weinkauf, Justin G. Gormley, Andrew K. Parham, David M. and Ponniah, Umakumaran Andre, Jean-Luc Asakura, Yumi and Basiratnia, Mitra Bogdanovic, Radovan Bokenkamp, Arend and Bonneau, Dominique Buck, Anna Charrow, Joel Cochat, Pierre and Cordeiro, Isabel Deschenes, Georges Fenkci, M. Semin and Frange, Pierre Fruend, Stefan Fryssira, Helen and Guillen-Navarro, Encarna Keller, Kory Kirmani, Salman and Kobelka, Christine Lamfers, Petra Levtchenko, Elena Lewis, David B. Massella, Laura McLeod, D. Ross Milford, David V. and Nobili, Francois Saraiva, Jorge M. Semerci, C. Nur and Shoemaker, Lawrence Stajic, Natasa Stein, Anja Taha, Doris and Wand, Dorothea Zonana, Jonathan Luecke, Thomas Boerkoel, Cornelius F.

Abstract

Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown. Methods: We reviewed the records of 65 patients with SMARCAL1 mutations. Molecular and immunohistochemical analyses were conducted on autopsy tissue from 4 SIOD patients. Results: Thirty-two of 63 patients had signs of arteriosclerosis and 3 of 51 had signs of emphysema. The arteriosclerosis was characterized by intimal and medial hyperplasia, smooth muscle cell hyperplasia and fragmented and disorganized elastin fibers, and the pulmonary disease was characterized by panlobular enlargement of air spaces. Consistent with a cell autonomous disorder, SMARCAL1 was expressed in arterial and lung tissue, and both the aorta and lung of SIOD patients had reduced expression of elastin and alterations in the expression of regulators of elastin gene expression. Conclusions: This first comprehensive study of the vascular and pulmonary complications of SIOD shows that these commonly cause morbidity and mortality and might arise from impaired elastogenesis. Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD.

Published
2012

29. Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Author

Thomas, Anna C., primary, Williams, Hywel, additional, Setó-Salvia, Núria, additional, Bacchelli, Chiara, additional, Jenkins, Dagan, additional, O’Sullivan, Mary, additional, Mengrelis, Konstantinos, additional, Ishida, Miho, additional, Ocaka, Louise, additional, Chanudet, Estelle, additional, James, Chela, additional, Lescai, Francesco, additional, Anderson, Glenn, additional, Morrogh, Deborah, additional, Ryten, Mina, additional, Duncan, Andrew J., additional, Pai, Yun Jin, additional, Saraiva, Jorge M., additional, Ramos, Fabiana, additional, Farren, Bernadette, additional, Saunders, Dawn, additional, Vernay, Bertrand, additional, Gissen, Paul, additional, Straatmaan-Iwanowska, Anna, additional, Baas, Frank, additional, Wood, Nicholas W., additional, Hersheson, Joshua, additional, Houlden, Henry, additional, Hurst, Jane, additional, Scott, Richard, additional, Bitner-Glindzicz, Maria, additional, Moore, Gudrun E., additional, Sousa, Sérgio B., additional, and Stanier, Philip, additional

Published
2015
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30. DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Author

White, Janson, primary, Mazzeu, Juliana F., additional, Hoischen, Alexander, additional, Jhangiani, Shalini N., additional, Gambin, Tomasz, additional, Alcino, Michele Calijorne, additional, Penney, Samantha, additional, Saraiva, Jorge M., additional, Hove, Hanne, additional, Skovby, Flemming, additional, Kayserili, Hülya, additional, Estrella, Elicia, additional, Vulto-van Silfhout, Anneke T., additional, Steehouwer, Marloes, additional, Muzny, Donna M., additional, Sutton, V. Reid, additional, Gibbs, Richard A., additional, Lupski, James R., additional, Brunner, Han G., additional, van Bon, Bregje W.M., additional, and Carvalho, Claudia M.B., additional

Published
2015
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31. Schimke immunoosseous dysplasia: defining skeletal features

Author

Hunter, Kshamta B. Luecke, Thomas Spranger, Juergen and Smithson, Sarah F. Alpay, Harika Andre, Jean-Luc Asakura, Yumi Bogdanovic, Radovan Bonneau, Dominique Cairns, Robyn and Cransberg, Karlien Fruend, Stefan Fryssira, Helen and Goodman, David Helmke, Knut Hinkelmann, Barbara Lama, Guiliana Lamfers, Petra Loirat, Chantal Majore, Silvia and Mayfield, Christy Pontz, Bertram F. Rusu, Cristina Saraiva, Jorge M. Schmidt, Beate Shoemaker, Lawrence Sigaudy, Sabine and Stajic, Natasa Taha, Doris Boerkoel, Cornelius F.

Abstract

Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis. Biallelic mutations in swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD, but approximately half of patients referred for molecular studies do not have detectable mutations in SMARCAL1. We hypothesized that skeletal features distinguish between those with or without SMARCAL1 mutations. Therefore, we analyzed the skeletal radiographs of 22 patients with and 11 without detectable SMARCAL1 mutations. We found that patients with SMARCAL1 mutations have a spondyloepiphyseal dysplasia (SED) essentially limited to the spine, pelvis, capital femoral epiphyses, and possibly the sella turcica, whereas the hands and other long bones are basically normal. Additionally, we found that several of the adolescent and young adult patients developed osteoporosis and coxarthrosis. Of the 11 patients without detectable SMARCAL1 mutations, seven had a SED indistinguishable from patients with SMARCAL1 mutations. We conclude therefore that SED is a feature of patients with SMARCAL1 mutations and that skeletal features do not distinguish who of those with SED have SMARCAL1 mutations.

Published
2010

32. Oculo-auriculo-vertebral spectrum: A review of the literature and genetic update

Author

UCL - (SLuc) Centre de génétique médicale UCL, Beleza-Meireles, Ana, Clayton-Smith, Jill, Saraiva, Jorge M., Tassabehji, May, UCL - (SLuc) Centre de génétique médicale UCL, Beleza-Meireles, Ana, Clayton-Smith, Jill, Saraiva, Jorge M., and Tassabehji, May

Abstract

Oculo-auriculo-vertebral spectrum (OAVS, OMIM 164 210) is a developmental disorder primarily involving structures derived from the first and second pharyngeal arches during embryogenesis. The phenotype is clinically heterogeneous and is typically characterised by abnormal development of the ear, mandible anomalies and defects of the vertebral column. OAVS may occur as a multiple congenital abnormality, and associated findings include anomalies of the eye, brain, heart, kidneys and other organs and systems. Both genetic and environmental factors are thought to contribute to this craniofacial condition, however, the mechanisms are still poorly understood. Here, we present a review of the literature on OAVS, discussing what is known about the aetiology, candidate loci, possible mechanisms and the range of clinical features that characterise this condition. We also comment on some important aspects of recurrence risk counselling to aid clinical management.

Published
2014

33. Schimke immunoosseous dysplasia: Suggestions of genetic diversity

Author

Clewing, J. Marietta Fryssira, Helen Goodman, David and Smithson, Sarah F. Sloan, Emily A. Lou, Shu Huang, Yan and Chow, Kunho Luecke, Thomas Alpay, Harika Andre, Jean-Luc and Asakura, Yumi Biebuyck-Gouge, Nathalie Bogdanovic, Radovan and Bonneau, Dominique Cancrini, Caterina Cochat, Pierre and Cockfield, Sandra Collard, Laure Cordeiro, Isabel and Cormier-Daire, Valerie Cransberg, Karlien Cutka, Karel and Deschenes, Georges Ehrich, Jochen H. H. Frund, Stefan and Georgaki, Helen Guillen-Navarro, Encarna Hinkelmann, Barbara and Kanariou, Maria Kasap, Belde Kilic, Sara Sebnem Lama, Guiliana Lamfers, Petra Loirat, Chantal Majore, Silvia and Milford, David Morin, Denis Ozdemir, Nihal Pontz, Bertram F. and Proesmans, Willem Psoni, Stavroula Reichenbach, Herbert and Reif, Silke Rusu, Cristina Saraiva, Jorge M. Sakallioglu, Onur Schmidt, Beate Shoemaker, Lawrence Sigaudy, Sabine and Smith, Graham Sotsiou, Flora Stajic, Natasa Stein, Anja and Stray-Pedersen, Asbjorg Taha, Doris Taque, Sophie Tizard, Jane Tsimaratos, Michel Wong, Newton A. C. S. Boerkoel, Cornelius F.

Abstract

Schimke immunoosseous dysplasia (SIOD), which is characterized by prominent spondyloepiplayseal dysplasia, T-cell deficiency, and focal segmental glomerulosclerosis, is a panethnic autosomal recessive multisystem disorder with variable expressivity. Biallelic mutations in switch/sucrose nonfermenting (swi/snf) related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1) are the only identified cause of SIOD. However, among 72 patients from different families, we identified only 38 patients with biallelic mutations in the coding exons and splice junctions of the SMARCAL1 gene. This observation, the variable expressivity, and poor genotype-phenotype correlation led us to test several hypotheses including modifying haplotypes, oligogenic inheritance, or locus heterogeneity in SIOD. Haplotypes associated with the two more common mutations, R820H and E848X, did not correlate with phenotype. Also, contrary to monoallelic SMARCAL1 coding mutations indicating oligogenic inheritance, we found that all these patients did not express RNA and/or protein from the other allele and thus have biallelic SMARCAL1 mutations. We hypothesize therefore that the variable expressivity among patients with biallelic SMARCAL1 mutations arises from environmental, genetic, or epigenetic modifiers. Among patients without detectable SMARCAL1 coding mutations, our analyses of cell lines from four of these patients showed that they expressed normal levels of SMARCAL1 mRNA and protein. This is the first evidence for nonallelic heterogeneity in SIOD. From analysis of the postmortem histopathology from two patients and the clinical data from most patients, we propose the existence of endophenotypes of SIOD.

Published
2007

34. Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Author

Thomas, Anna C., primary, Williams, Hywel, additional, Setó-Salvia, Núria, additional, Bacchelli, Chiara, additional, Jenkins, Dagan, additional, O’Sullivan, Mary, additional, Mengrelis, Konstantinos, additional, Ishida, Miho, additional, Ocaka, Louise, additional, Chanudet, Estelle, additional, James, Chela, additional, Lescai, Francesco, additional, Anderson, Glenn, additional, Morrogh, Deborah, additional, Ryten, Mina, additional, Duncan, Andrew J., additional, Pai, Yun Jin, additional, Saraiva, Jorge M., additional, Ramos, Fabiana, additional, Farren, Bernadette, additional, Saunders, Dawn, additional, Vernay, Bertrand, additional, Gissen, Paul, additional, Straatmaan-Iwanowska, Anna, additional, Baas, Frank, additional, Wood, Nicholas W., additional, Hersheson, Joshua, additional, Houlden, Henry, additional, Hurst, Jane, additional, Scott, Richard, additional, Bitner-Glindzicz, Maria, additional, Moore, Gudrun E., additional, Sousa, Sérgio B., additional, and Stanier, Philip, additional

Published
2014
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37. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

Author

Sousa, Sérgio B, primary, Jenkins, Dagan, additional, Chanudet, Estelle, additional, Tasseva, Guergana, additional, Ishida, Miho, additional, Anderson, Glenn, additional, Docker, James, additional, Ryten, Mina, additional, Sa, Joaquim, additional, Saraiva, Jorge M, additional, Barnicoat, Angela, additional, Scott, Richard, additional, Calder, Alistair, additional, Wattanasirichaigoon, Duangrurdee, additional, Chrzanowska, Krystyna, additional, Simandlová, Martina, additional, Van Maldergem, Lionel, additional, Stanier, Philip, additional, Beales, Philip L, additional, Vance, Jean E, additional, and Moore, Gudrun E, additional

Published
2013
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40. Schimke immunoosseous dysplasia: defining skeletal features

Author

Hunter, Kshamta B., primary, Lücke, Thomas, additional, Spranger, Jürgen, additional, Smithson, Sarah F., additional, Alpay, Harika, additional, André, Jean-Luc, additional, Asakura, Yumi, additional, Bogdanovic, Radovan, additional, Bonneau, Dominique, additional, Cairns, Robyn, additional, Cransberg, Karlien, additional, Fründ, Stefan, additional, Fryssira, Helen, additional, Goodman, David, additional, Helmke, Knut, additional, Hinkelmann, Barbara, additional, Lama, Guiliana, additional, Lamfers, Petra, additional, Loirat, Chantal, additional, Majore, Silvia, additional, Mayfield, Christy, additional, Pontz, Bertram F., additional, Rusu, Cristina, additional, Saraiva, Jorge M., additional, Schmidt, Beate, additional, Shoemaker, Lawrence, additional, Sigaudy, Sabine, additional, Stajic, Natasa, additional, Taha, Doris, additional, and Boerkoel, Cornelius F., additional

Published
2009
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42. Association of migraine-like headaches with Schimke immuno-osseous dysplasia

Author

Kilic, Sara Sebnem, primary, Donmez, Osman, additional, Sloan, Emily A., additional, Elizondo, Leah I., additional, Huang, Cheng, additional, André, Jean-Luc, additional, Bogdanovic, Radovan, additional, Cockfield, Sandra, additional, Cordeiro, Isabel, additional, Deschenes, Georges, additional, Fründ, Stefan, additional, Kaitila, Ilkka, additional, Lama, Giuliana, additional, Lamfers, Petra, additional, Lücke, Thomas, additional, Milford, David V., additional, Najera, Lydia, additional, Rodrigo, Francisco, additional, Saraiva, Jorge M., additional, Schmidt, Beate, additional, Smith, Graham C., additional, Stajic, Nastasa, additional, Stein, Anja, additional, Taha, Doris, additional, Wand, Dorothea, additional, Armstrong, Dawna, additional, and Boerkoel, Cornelius F., additional

Published
2005
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43. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Author

Boerkoel, Cornelius F., primary, Takashima, Hiroshi, additional, John, Joy, additional, Yan, Jiong, additional, Stankiewicz, Pawel, additional, Rosenbarker, Lisa, additional, André, Jean-Luc, additional, Bogdanovic, Radovan, additional, Burguet, Antoine, additional, Cockfield, Sandra, additional, Cordeiro, Isabel, additional, Fründ, Stefan, additional, Illies, Friederike, additional, Joseph, Mark, additional, Kaitila, Ilkka, additional, Lama, Giuliana, additional, Loirat, Chantal, additional, McLeod, D. Ross, additional, Milford, David V., additional, Petty, Elizabeth M., additional, Rodrigo, Francisco, additional, Saraiva, Jorge M., additional, Schmidt, Beate, additional, Smith, Graham C., additional, Spranger, Jürgen, additional, Stein, Anja, additional, Thiele, Hannelore, additional, Tizard, Jane, additional, Weksberg, Rosanna, additional, Lupski, James R., additional, and Stockton, David W., additional

Published
2002
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45. Issues in Human GenEthics

Author

Saraiva, Jorge M, primary, Anionwu, Elizabeth, additional, Belo, Maria, additional, Jenkins, Trefor, additional, Kristoffersson, Ulf, additional, Marques, Isabel, additional, Santos, Heloisa G, additional, Sequeiros, Jorge, additional, Simpsom, Sheila A, additional, Wertz, Dorothy, additional, and Monteiro, Carolino, additional

Published
2001
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47. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Author

Sousa, Sérgio B, Jenkins, Dagan, Chanudet, Estelle, Tasseva, Guergana, Ishida, Miho, Anderson, Glenn, Docker, James, Ryten, Mina, Sa, Joaquim, Saraiva, Jorge M, Barnicoat, Angela, Scott, Richard, Calder, Alistair, Wattanasirichaigoon, Duangrurdee, Chrzanowska, Krystyna, Simandlová, Martina, Van Maldergem, Lionel, Stanier, Philip, Beales, Philip L, and Vance, Jean E

Subjects
GAIN-of-function mutations, PHOSPHATIDYLSERINE synthase, HUMAN abnormalities, ETIOLOGY of diseases, PHOSPHATIDYLSERINES, NUCLEOTIDE sequence
Abstract

Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine synthesis was increased in intact fibroblasts from affected individuals, and end-product inhibition of PSS1 by phosphatidylserine was markedly reduced. Therefore, these mutations cause a gain-of-function effect associated with regulatory dysfunction of PSS1. We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism. [ABSTRACT FROM AUTHOR]

Published
2014
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