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29 results on '"Honjo, Rachel S."'

1. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

Author

Aoi, Hiromi, Mizuguchi, Takeshi, Ceroni, José Ricard, Kim, Veronica Eun Hue, Furquim, Isabel, Honjo, Rachel S., Iwaki, Takuma, Suzuki, Toshifumi, Sekiguchi, Futoshi, Uchiyama, Yuri, Azuma, Yoshiteru, Hamanaka, Kohei, Koshimizu, Eriko, Miyatake, Satoko, Mitsuhashi, Satomi, Takata, Atsushi, Miyake, Noriko, Takeda, Satoru, Itakura, Atsuo, Bertola, Débora R., Kim, Chong Ae, and Matsumoto, Naomichi

Published
2019
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7. The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non‐Morrocan ancestry.

Author

Ali, Taccyanna M., Linnenkamp, Bianca D. W., Yamamoto, Guilherme L., Honjo, Rachel S., Cabral de Menezes Filho, Hamilton, Kim, Chong Ae, and Bertola, Débora R.

Abstract

Osteogenesis imperfecta (OI) is a rare low‐bone mass skeletal Mendelian disorder characterized by bone fragility leading to bone fractures, with deformities and stunted growth in the more severe phenotypes. Other common, nonskeletal findings include blue sclerae and dentinogenesis imperfecta. It is caused mainly by quantitative or structural defects in type I collagen, although dysregulation of different signaling pathways that play a role in bone morphogenesis has been described to be associated with a small fraction of individuals with OI. Recently, a homozygous variant in the translation start site of CCDC134, showing increased activation of the RAS/MAPK signaling pathway, has been reported in three families of Moroccan origin with a severe, deforming form of OI. We report on a 9‐year‐old Brazilian boy, harboring the same homozygous variant in CCDC134, also presenting severe bone involvement. This report contributes to the phenotypic delineation of this novel autosomal recessive form of OI, which presents with high prevalence of nonunion fractures considered rare events in OI in general. In addition, it expands the phenotype to include base skull anomalies, potentially leading to serious complications, as seen in severe forms of OI. A poor response to bisphosphonate therapy was observed in these individuals. As the variant in CCDC134 leads to dysregulation of the RAS/MAPK signaling pathway, drugs targeted to this pathway could be an alternative to achieve a better management of these individuals. [ABSTRACT FROM AUTHOR]

Published
2022
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9. Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Author

Uchiyama, Yuri, primary, Yamaguchi, Daisuke, additional, Iwama, Kazuhiro, additional, Miyatake, Satoko, additional, Hamanaka, Kohei, additional, Tsuchida, Naomi, additional, Aoi, Hiromi, additional, Azuma, Yoshiteru, additional, Itai, Toshiyuki, additional, Saida, Ken, additional, Fukuda, Hiromi, additional, Sekiguchi, Futoshi, additional, Sakaguchi, Tomohiro, additional, Lei, Ming, additional, Ohori, Sachiko, additional, Sakamoto, Masamune, additional, Kato, Mitsuhiro, additional, Koike, Takayoshi, additional, Takahashi, Yukitoshi, additional, Tanda, Koichi, additional, Hyodo, Yuki, additional, Honjo, Rachel S., additional, Bertola, Debora Romeo, additional, Kim, Chong Ae, additional, Goto, Masahide, additional, Okazaki, Tetsuya, additional, Yamada, Hiroyuki, additional, Maegaki, Yoshihiro, additional, Osaka, Hitoshi, additional, Ngu, Lock‐Hock, additional, Siew, Ch'ng G., additional, Teik, Keng W., additional, Akasaka, Manami, additional, Doi, Hiroshi, additional, Tanaka, Fumiaki, additional, Goto, Tomohide, additional, Guo, Long, additional, Ikegawa, Shiro, additional, Haginoya, Kazuhiro, additional, Haniffa, Muzhirah, additional, Hiraishi, Nozomi, additional, Hiraki, Yoko, additional, Ikemoto, Satoru, additional, Daida, Atsuro, additional, Hamano, Shin‐ichiro, additional, Miura, Masaki, additional, Ishiyama, Akihiko, additional, Kawano, Osamu, additional, Kondo, Akane, additional, Matsumoto, Hiroshi, additional, Okamoto, Nobuhiko, additional, Okanishi, Tohru, additional, Oyoshi, Yukimi, additional, Takeshita, Eri, additional, Suzuki, Toshifumi, additional, Ogawa, Yoshiyuki, additional, Handa, Hiroshi, additional, Miyazono, Yayoi, additional, Koshimizu, Eriko, additional, Fujita, Atsushi, additional, Takata, Atsushi, additional, Miyake, Noriko, additional, Mizuguchi, Takeshi, additional, and Matsumoto, Naomichi, additional

Published
2020
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10. Phenotype–genotype analysis of 242 individuals with RASopathies : 18‐year experience of a tertiary center in Brazil

Author

Bertola, Débora R., primary, Castro, Matheus A. A., additional, Yamamoto, Guilherme L., additional, Honjo, Rachel S., additional, Ceroni, José Ricardo, additional, Buscarilli, Michele M., additional, Freitas, Amanda B., additional, Malaquias, Alexsandra C., additional, Pereira, Alexandre C., additional, Jorge, Alexander A. L., additional, Passos‐Bueno, Maria Rita, additional, and Kim, Chong A., additional

Published
2020
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11. Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America

Author

Solano, Martha L., primary, Fainboim, Alejandro, additional, Politei, Juan, additional, Porras-Hurtado, Gloria L., additional, Martins, Ana Maria, additional, Souza, Carolina F. Moura, additional, Koch, Felipe Mendez, additional, Amartino, Hernan, additional, Satizábal, Jose Maria, additional, Horovitz, Dafne D.G., additional, Medeiros, Paula F.V., additional, Honjo, Rachel S., additional, and Lourenço, Charles M., additional

Published
2020
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12. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Author

Moosa, Shahida, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco, Semler, Oliver, Beleggia, Filippo, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd, Netzer, Christian, Moosa, Shahida, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sergio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, de Menezes, Hamilton Cabral, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Jr., Bezerra Carniero, Tulio Canella, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco, Semler, Oliver, Beleggia, Filippo, Li, Yun, Yigit, Goekhan, Reintjes, Nadine, Altmueller, Janine, Nuernberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd, and Netzer, Christian

Abstract

Osteogenesis imperfecta (OI) comprises a genetically heterogeneous group of skeletal fragility diseases. Here, we report on five independent families with a progressively deforming type of OI, in whom we identified four homozygous truncation or frameshift mutations in MESD. Affected individuals had recurrent fractures and at least one had oligodontia. MESD encodes an endoplasmic reticulum (ER) chaperone protein for the canonical Wingless-related integration site (WNT) signaling receptors LRP5 and LRP6. Because complete absence of MESD causes embryonic lethality in mice, we hypothesized that the OI-associated mutations are hypomorphic alleles since these mutations occur downstream of the chaperone activity domain but upstream of ER-retention domain. This would be consistent with the clinical phenotypes of skeletal fragility and oligodontia in persons deficient for LRP5 and LRP6, respectively. When we expressed wild-type (WT) and mutant MESD in HEK293T cells, we detected WT MESD in cell lysate but not in conditioned medium, whereas the converse was true for mutant MESD. We observed that both WT and mutant MESD retained the ability to chaperone LRP5. Thus, 01-associated MESD mutations produce hypomorphic alleles whose failure to remain within the ER significantly reduces but does not completely eliminate LRP5 and LRP6 trafficking. Since these individuals have no eye abnormalities (which occur in individuals completely lacking LRP5) and have neither limb nor brain patterning defects (both of which occur in mice completely lacking LRP6), we infer that bone mass accrual and dental patterning are more sensitive to reduced canonical WNT signaling than are other developmental processes. Biologic agents that can increase LRP5 and LRP6-mediated WNT signaling could benefit individuals with MESD-associated OI.

Published
2019

13. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

Author

Dutra Roberta L, Honjo Rachel S, Kulikowski Leslie D, Fonseca Fernanda M, Pieri Patrícia C, Jehee Fernanda S, Bertola Debora R, and Kim Chong A

Subjects
Medicine, Biology (General), QH301-705.5, Science (General), Q1-390
Abstract

Abstract Background Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considered the gold standard technique, the microsatellite DNA markers and multiplex ligation-dependent probe amplification (MLPA) could be used for to confirm the diagnosis of WBS. Results We have evaluated a total cohort of 88 patients with a suspicion clinical diagnosis of WBS using a collection of five markers (D7S1870, D7S489, D7S613, D7S2476, and D7S489_A) and a commercial MLPA kit (P029). The microdeletion was present in 64 (72.7%) patients and absent in 24 (27.3%) patients. The parental origin of deletion was maternal in 36 of 64 patients (56.3%) paternal in 28 of 64 patients (43.7%). The deletion size was 1.55 Mb in 57 of 64 patients (89.1%) and 1.84 Mb in 7 of 64 patients (10.9%). The results were concordant using both techniques, except for four patients whose microsatellite markers were uninformative. There were no clinical differences in relation to either the size or parental origin of the deletion. Conclusion MLPA was considered a faster and more economical method in a single assay, whereas the microsatellite markers could determine both the size and parental origin of the deletion in WBS. The microsatellite marker and MLPA techniques are effective in deletion detection in WBS, and both methods provide a useful diagnostic strategy mainly for developing countries.

Published
2012
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14. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

Author

Moosa, Shahida, primary, Yamamoto, Guilherme L., additional, Garbes, Lutz, additional, Keupp, Katharina, additional, Beleza-Meireles, Ana, additional, Moreno, Carolina Araujo, additional, Valadares, Eugenia Ribeiro, additional, de Sousa, Sérgio B., additional, Maia, Sofia, additional, Saraiva, Jorge, additional, Honjo, Rachel S., additional, Kim, Chong Ae, additional, Cabral de Menezes, Hamilton, additional, Lausch, Ekkehart, additional, Lorini, Pablo Villavicencio, additional, Lamounier, Arsonval, additional, Carniero, Tulio Canella Bezerra, additional, Giunta, Cecilia, additional, Rohrbach, Marianne, additional, Janner, Marco, additional, Semler, Oliver, additional, Beleggia, Filippo, additional, Li, Yun, additional, Yigit, Gökhan, additional, Reintjes, Nadine, additional, Altmüller, Janine, additional, Nürnberg, Peter, additional, Cavalcanti, Denise P., additional, Zabel, Bernhard, additional, Warman, Matthew L., additional, Bertola, Debora R., additional, Wollnik, Bernd, additional, and Netzer, Christian, additional

Published
2019
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15. Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

Author

Malaquias, Alexsandra C., primary, Noronha, Renata M., additional, Souza, Thaiana T.O., additional, Homma, Thais K., additional, Funari, Mariana F.A., additional, Yamamoto, Guilherme L., additional, Silva, Fernanda Viana, additional, Moraes, Michelle B., additional, Honjo, Rachel S., additional, Kim, Chong A., additional, Nesi-França, Suzana, additional, Carvalho, Julienne A.R., additional, Quedas, Elisangela P.S., additional, Bertola, Debora R., additional, and Jorge, Alexander A.L., additional

Published
2019
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16. Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

Author

Gasparini, Yanca, primary, Montenegro, Marília M., additional, Novo-Filho, Gil M., additional, Ceroni, José R.M., additional, Honjo, Rachel S., additional, Zanardo, Évelin A., additional, Dias, Alexandre T., additional, Nascimento, Amon M., additional, Costa, Taís V.M.M., additional, Madia, Fabrícia A., additional, Chehimi, Samar N., additional, Damasceno, Jullian G., additional, Kim, Chong A., additional, and Kulikowski, Leslie D., additional

Published
2019
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18. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Author

Homma, Thais K., primary, Krepischi, Ana C.V., additional, Furuya, Tatiane K., additional, Honjo, Rachel S., additional, Malaquias, Alexsandra C., additional, Bertola, Debora R., additional, Costa, Silvia S., additional, Canton, Ana P., additional, Roela, Rosimeire A., additional, Freire, Bruna L., additional, Kim, Chong A., additional, Rosenberg, Carla, additional, and Jorge, Alexander A.L., additional

Published
2017
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20. Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability

Author

Novo-Filho, Gil M., primary, Montenegro, Marília M., additional, Zanardo, Évelin A., additional, Dutra, Roberta L., additional, Dias, Alexandre T., additional, Piazzon, Flavia B., additional, Costa, Taís V.M.M., additional, Nascimento, Amom M., additional, Honjo, Rachel S., additional, Kim, Chong A., additional, and Kulikowski, Leslie D., additional

Published
2016
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21. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.

Author

Homma, Thais K., Krepischi, Ana C.V., Furuya, Tatiane K., Honjo, Rachel S., Malaquias, Alexsandra C., Bertola, Debora R., Costa, Silvia S., Canton, Ana P., Roela, Rosimeire A., Freire, Bruna L., Kim, Chong A., Rosenberg, Carla, and Jorge, Alexander A.L.

Subjects
SINGLE nucleotide polymorphisms, GASTROENTERITIS
Abstract

Background/Aims: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. Methods: We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All patients were evaluated by chromosomal microarray (array-based comparative genomic hybridization/single nucleotide polymorphism array). Additionally, we searched databases and previous studies to recover recurrent pathogenic CNVs associated with short stature. Results: We identified 32 pathogenic/probably pathogenic CNVs in 229 patients. By reviewing the literature, we selected 4 previous studies which evaluated CNVs in cohorts of patients with short stature. Taken together, there were 671 patients with short stature of unknown cause evaluated by chromosomal microarray. Pathogenic/probably pathogenic CNVs were identified in 87 patients (13%). Seven recurrent CNVs, 22q11.21, 15q26, 1p36.33, Xp22.33, 17p13.3, 1q21.1, 2q24.2, were observed. They are responsible for about 40% of all pathogenic/probably pathogenic genomic imbalances found in short stature patients of unknown cause. Conclusion: CNVs seem to play a significant role in patients with short stature. Chromosomal microarray should be used as a diagnostic tool for evaluation of growth disorders, especially for syndromic short stature of unknown cause. [ABSTRACT FROM AUTHOR]

Published
2018
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27. Spondylocostal Dysostosis Associated with Methylmalonic Aciduria

Author

Honjo, Rachel S., primary, Casella, Erasmo B., additional, Vieira, Maria A., additional, Bertola, Débora R., additional, Albano, Lilian M.J., additional, Oliveira, Luiz A., additional, Nomachi, Shosuke, additional, Hanai, Junji, additional, Benoist, Jean-François, additional, Ellard, Sian, additional, Young, Elizabeth, additional, and Kim, Chong A., additional

Published
2009
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28. Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

Author

de Athayde Costa, Larissa Sampaio, Zandona-Teixeira, Aline C., Montenegro, Marilia M., Dias, Alexandre T., Dutra, Roberta L., Honjo, Rachel S., Bertola, Debora R., Kulikowski, Leslie D., and Kim, Chong A.

Subjects
CYTOGENETICS, GENOMICS, FOLLOW-up studies (Medicine), BRAZILIANS, GENETIC disorders, PATIENTS, DISEASES
Abstract

Background: Pallister-Killian syndrome (PKS) is a sporadic genetic disorder caused by the presence of a tissue-specific mosaicism for isochromosome 12p - i(12) (p10) and is characterized by facial dysmorphism including coarse facies, upslanting palpebral fissures, bitemporal alopecia, pigmentary skin anomalies, developmental delay, hypotonia and seizures. Although typical clinical features of PKS commonly exist, clinicians often do not raise the possibility of this diagnosis. Results: We reviewed the medical records of 10 patients with confirmed PKS followed in our service (since 1990 to 2015). Age at diagnosis varied from prenatal to 3 years and clinical features were consistent with those described in the literature. In all patients, peripheral blood karyotypes were normal and cytogenomic study was performed in order to confirm the diagnosis. Three of these patients had PKS diagnosis confirmed by buccal smear MLPA. Conclusion: An early conclusion from our results demonstrated that MLPA on buccal smears is a good and non-invasive method to detect extra copies of 12p and should be considered as the first exam, before a skin biopsy for a fibroblast karyotype is performed. [ABSTRACT FROM AUTHOR]

Published
2015
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29. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.

Author

Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, and Matsumoto N

Subjects
Algorithms, Female, High-Throughput Nucleotide Sequencing methods, Humans, Male, Reproducibility of Results, Exome Sequencing, DNA Copy Number Variations, Exome genetics
Abstract

Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity and specificity, reproducibility, and precision. However, operational optimization of such algorithms for a better performance has not been fully addressed. ES of 1199 samples including 763 patients with different disease profiles was performed. ES data were analyzed to detect CNVs by both the eXome Hidden Markov Model (XHMM) and modified Nord's method. To efficiently detect rare CNVs, we aimed to decrease sequencing biases by analyzing, at the same time, the data of all unrelated samples sequenced in the same flow cell as a batch, and to eliminate sex effects of X-linked CNVs by analyzing female and male sequences separately. We also applied several filtering steps for more efficient CNV selection. The average number of CNVs detected in one sample was <5. This optimization together with targeted CNV analysis by Nord's method identified pathogenic/likely pathogenic CNVs in 34 patients (4.5%, 34/763). In particular, among 142 patients with epilepsy, the current protocol detected clinically relevant CNVs in 19 (13.4%) patients, whereas the previous protocol identified them in only 14 (9.9%) patients. Thus, this batch-based XHMM analysis efficiently selected rare pathogenic CNVs in genetic diseases., (© 2020 Wiley Periodicals LLC.)

Published
2021
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