Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Gladys Zapata"'
Autor:
Kristina Macakova, Jefferson Sinson, Sen Zhao, Hongzheng Dai, Jill Rosenfeld, Gladys Zapata, Shenglan Li, Patricia Ward, Christiana Wang, Chunjing Qu, Becky Maywald, Undiagnosed Disease Network, Brendan Lee, Christine Eng, Pengfei Liu
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101654- (2024)
Externí odkaz:
https://doaj.org/article/7ddd6f490b96489aa3c6b57db61cc3d7
Autor:
Laure Asselin, José Rivera Alvarez, Solveig Heide, Camille S. Bonnet, Peggy Tilly, Hélène Vitet, Chantal Weber, Carlos A. Bacino, Kristin Baranaño, Anna Chassevent, Amy Dameron, Laurence Faivre, Neil A. Hanchard, Sonal Mahida, Kirsty McWalter, Cyril Mignot, Caroline Nava, Agnès Rastetter, Haley Streff, Christel Thauvin-Robinet, Marjan M. Weiss, Gladys Zapata, Petra J. G. Zwijnenburg, Frédéric Saudou, Christel Depienne, Christelle Golzio, Delphine Héron, Juliette D. Godin
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Kinesins regulate intracellular transport and microtubule dynamics. Here, the authors show that KIF21B variants in humans associate with corpus callosum agenesis and microcephaly. Using mice and zebrafish, they showed the cellular mechanisms altered
Externí odkaz:
https://doaj.org/article/85fa7763d73b4163bd09f2ee5a5c74a8
Autor:
Katharina V. Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J. Hopkin, Aaron Hamvas, Jennifer A. Wambach, Marwan Shinawi, Gladys Zapata, Claudia M. B. Carvalho, Qian Liu, Justyna A. Karolak, James R. Lupski, Neil A. Hanchard, Paweł Stankiewicz
Publikováno v:
Clinical Epigenetics, Vol 11, Iss 1, Pp 1-10 (2019)
Abstract Background Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal developmental lung disease, alveolar capillary dysplasia with misalignment of p
Externí odkaz:
https://doaj.org/article/bf6be8c5ff914536b4d51e4548e033c3
Autor:
Noah A Rosenberg, Saurabh Mahajan, Catalina Gonzalez-Quevedo, Michael G B Blum, Laura Nino-Rosales, Vasiliki Ninis, Parimal Das, Madhuri Hegde, Laura Molinari, Gladys Zapata, James L Weber, John W Belmont, Pragna I Patel
Publikováno v:
PLoS Genetics, Vol 2, Iss 12, p e215 (2006)
Ongoing modernization in India has elevated the prevalence of many complex genetic diseases associated with a western lifestyle and diet to near-epidemic proportions. However, although India comprises more than one sixth of the world's human populati
Externí odkaz:
https://doaj.org/article/3fa8654f16a34487a465b41aad07b652
Autor:
Pengfei Liu, Ian M. Campbell, Gladys Zapata, Rachel Franciskovich, Michelle E Walters, Bret L. Bostwick, Patricia P. Hernandez, Mahshid S. Azamian, Yves Lacassie, Seema R. Lalani
Publikováno v:
American Journal of Medical Genetics Part A. 185:916-922
ALX4 is a homeobox gene expressed in the mesenchyme of developing bone and is known to play an important role in the regulation of osteogenesis. Enlarged parietal foramina (EPF) is a phenotype of delayed intramembranous ossification of calvarial bone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6aa372df56ec34f35747a5b0f30f2ad7
https://doi.org/10.1002/ajmg.a.62036
https://doi.org/10.1002/ajmg.a.62036
Autor:
Richard A. Gibbs, Zeynep Coban-Akdemir, Jeffrey J. Kim, Yaping Yang, Wu Lin Charng, Eric Boerwinkle, Fatima Boricha, Jaya Punetha, Harsha Doddapaneni, Jianhong Hu, Jennifer E. Posey, Mahshid S. Azamian, James R. Lupski, Christopher M. Grochowski, Gladys Zapata, Seema R. Lalani, Santiago O. Valdes, Tomasz Gambin, Donna M. Muzny, Ingrid S. Paine, Patricia P. Hernandez, Xander H.T. Wehrens, Bryan C. Cannon, Shalini N. Jhangiani, John W. Belmont, Christina Y. Miyake
Publikováno v:
Am J Med Genet A
BACKGROUND: Wolff-Parkinson-White (WPW) syndrome is a relatively common arrhythmia affecting ~1-3/1000 individuals. Mutations in PRKAG2 have been described in rare patients in association with cardiomyopathy. However, the genetic basis of WPW in indi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::439e7eefdb0b39dd05a97174cdd6e60d
https://doi.org/10.1002/ajmg.a.61571
https://doi.org/10.1002/ajmg.a.61571
Autor:
Nathan C. Sundgren, Mahshid Azamian, Patricia P. Hernandez, Gladys Zapata, Katharina V. Schulze, John W. Belmont, Karin A. Fox, Neil A. Hanchard, Jeffrey R. Kaiser, Amit R. Bhatt
Publikováno v:
Genetics in Medicine. 21:2453-2461
Maternal diabetes is a known teratogen that can cause a wide spectrum of birth defects, collectively referred to as diabetic embryopathy (DE). However, the pathogenic mechanisms underlying DE remain uncertain and there are no definitive tests to esta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2314828d143e131849b2de724b6ef85
https://doi.org/10.1038/s41436-019-0516-z
https://doi.org/10.1038/s41436-019-0516-z
Autor:
Paolo Moretti, Shan Chen, Gladys Zapata, Michaela F. Müller, Carlos A. Bacino, William J. Craigen, Julien Gagneur, Hsiao-Tuan Chao, Shamika Ketkar, Hongzheng Dai, Vicente A. Yépez, Neil A. Hanchard, David R. Murdock, Lindsay C. Burrage, Brendan Lee, Jill A. Rosenfeld, Pengfei Liu, Mahim Jain
Publikováno v:
J Clin Invest
BACKGROUND: Transcriptome sequencing (RNA-seq) improves diagnostic rates in individuals with suspected Mendelian conditions to varying degrees, primarily by directing the prioritization of candidate DNA variants identified on exome or genome sequenci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9fb813495685262f82f1c4f89ebd07e
https://doi.org/10.1172/jci141500
https://doi.org/10.1172/jci141500
Autor:
Petra J. G. Zwijnenburg, Kirsty McWalter, Sonal Mahida, Delphine Héron, Frédéric Saudou, Hélène Vitet, Anna Chassevent, José Rivera Alvarez, Carlos A. Bacino, Juliette D. Godin, Christel Thauvin-Robinet, Chantal Weber, Laure Asselin, Caroline Nava, Christelle Golzio, Neil A. Hanchard, Christel Depienne, Peggy Tilly, Camille S. Bonnet, Cyril Mignot, Gladys Zapata, Amy Dameron, Marjan M. Weiss, Solveig Heide, Laurence Faivre, Haley Streff, Agnès Rastetter, Kristin W. Barañano
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-16294-6⟩
Nature Communications, 11, 1, pp. 1-18
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Nature Communications, 11, 1-18
Asselin, L, Rivera Alvarez, J, Heide, S, Bonnet, C S, Tilly, P, Vitet, H, Weber, C, Bacino, C A, Baranaño, K, Chassevent, A, Dameron, A, Faivre, L, Hanchard, N A, Mahida, S, McWalter, K, Mignot, C, Nava, C, Rastetter, A, Streff, H, Thauvin-Robinet, C, Weiss, M M, Zapata, G, Zwijnenburg, P J G, Saudou, F, Depienne, C, Golzio, C, Héron, D & Godin, J D 2020, ' Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity ', Nature Communications, vol. 11, no. 1, 2441 . https://doi.org/10.1038/s41467-020-16294-6
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-16294-6⟩
Nature Communications, 11, 1, pp. 1-18
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Nature Communications, 11, 1-18
Asselin, L, Rivera Alvarez, J, Heide, S, Bonnet, C S, Tilly, P, Vitet, H, Weber, C, Bacino, C A, Baranaño, K, Chassevent, A, Dameron, A, Faivre, L, Hanchard, N A, Mahida, S, McWalter, K, Mignot, C, Nava, C, Rastetter, A, Streff, H, Thauvin-Robinet, C, Weiss, M M, Zapata, G, Zwijnenburg, P J G, Saudou, F, Depienne, C, Golzio, C, Héron, D & Godin, J D 2020, ' Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity ', Nature Communications, vol. 11, no. 1, 2441 . https://doi.org/10.1038/s41467-020-16294-6
KIF21B is a kinesin protein that promotes intracellular transport and controls microtubule dynamics. We report three missense variants and one duplication in KIF21B in individuals with neurodevelopmental disorders associated with brain malformations,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2280cfa8349226d6a47d71980798ba85
https://hal.archives-ouvertes.fr/hal-03373809
https://hal.archives-ouvertes.fr/hal-03373809
Autor:
Gladys Zapata, Mahim Jain, Maria Antonella De Matteis, Jeremy Allgrove, David R. Murdock, Jeremy Wegner, Daryl A. Scott, Nitesh R. Mehta, Yuqing Chen, Alyssa A. Tran, Brian Dawson, Shan Chen, David R. Eyre, Xiaohui Li, Brendan Lee, Elda Munivez, Aurélie Clément, Rolf W. Stottmann, Richard A. Gibbs, Jill A. Rosenfeld, Jennifer B. Phillips, Yi-Chien Lee, Alistair Calder, Zixue Jin, V. Reid Sutton, Rossella Venditti, Ronit Marom, Kyu Sang Joeng, Ming-Ming Jiang, Lindsay C. Burrage, Rowenna Roberts, Marwan Shinawi, Denise G. Lanza, Joseph M. Sliepka, Shalini N. Jhangiani, Brenna A. Tremp, John R. Seavitt, Mary E. Dickinson, Ingo Grafe, Donna M. Muzny, Lisa Emrick, Tashunka Taylor-Miller, MaryAnn Weis, Abbey A. Scott, Neil A. Hanchard, Bernardo Blanco-Sánchez, Catherine DeVile, Cole D Kuzawa, Dominyka Batkovskyte, I-Wen Song, Ghayda Mirzaa, Jason D. Heaney, Catherine G. Ambrose
Coatomer complexes function in the sorting and trafficking of proteins between subcellular organelles. Pathogenic variants in coatomer subunits or associated factors have been reported in multi-systemic disorders, i.e., coatopathies, that can affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5bcc30e0b62660530076d1208b2a011b
https://doi.org/10.1101/2020.09.14.297234
https://doi.org/10.1101/2020.09.14.297234