Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Richard P, Lifton"'
Autor:
Jean-Laurent Casanova, Gaspard Kerner, Jacinta Bustamante, Matthieu Bouaziz, Laurent Abel, Benedetta Bigio, Richard P. Lifton, Andrew T. Timberlake, Aurélie Cobat
Publikováno v:
Proc Natl Acad Sci U S A
Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying monogenic disorders. Incomplete penetrance and variable expressivity suggest a contribution of additional genetic lesions to clinical manifestations and outcome.
Autor:
Mai B Bader, Eleni Zamba-Papanicolaou, Erin Loring, Richard P. Lifton, Ala Arafat, Khalid Horany, Antonis Ververis, Carol Nelson-Williams, Yaqoub Al-Baho, Bushra Ali, Lefkos T. Middleton, Kyproula Christodoulou, Ahmad A. Al-Oqaily, Tyrone DeSpenza, Ammar Fayez Mubaidin, Pantelitsa Koutsou, Abdelkarim A. Al-Qudah, Abdurrahman Muhtaseb, Rana Dajani
Publikováno v:
Journal of Medical Genetics
BackgroundDistal hereditary motor neuronopathies (dHMN) are a group of genetic disorders characterised by motor neuron degeneration leading to muscle weakness that are caused by mutations in various genes. HMNJ is a distinct form of the disease that
Autor:
Rufeng Dai, Shrikant Mane, Marcello Scala, Shirlee Shril, Alina C. Hilger, Dervla M. Connaughton, Franziska Kause, Heidi L. Rehm, Bernd Hoppe, Gianluca Piatelli, Stefanie Märzheuser, Makiko Nakayama, Caroline M. Kolvenbach, Richard P. Lifton, Vincenzo Nigro, Luca Schierbaum, Thomas M. Kitzler, Friedhelm Hildebrandt, Eberhard Schmiedeke, Gabriel C. Dworschak, Sophia Schneider, Heiko Reutter, Annalaura Torella, Valeria Capra, Amelie T. van der Ven, Ronen Schneider, Nina Mann, Andrea Accogli
Publikováno v:
Am J Med Genet A
INTRODUCTION: The acronym VATER/VACTERL refers to the rare non-random association of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac anomalies (C), tracheoesophageal fistula with or without es
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72bd4d2d86317627cfbf9ccf0ecc14ba
https://europepmc.org/articles/PMC8595524/
https://europepmc.org/articles/PMC8595524/
Autor:
Jae Yeon Hwang, Shoaib Nawaz, Jungmin Choi, Huafeng Wang, Shabir Hussain, Mehboob Nawaz, Francesc Lopez-Giraldez, Kyungjo Jeong, Weilai Dong, Jong-Nam Oh, Kaya Bilguvar, Shrikant Mane, Chang-Kyu Lee, Christopher Bystroff, Richard P. Lifton, Wasim Ahmad, Jean-Ju Chung
Publikováno v:
Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Asthenozoospermia accounts for over 80% of primary male infertility cases. Reduced sperm motility in asthenozoospermic patients are often accompanied by teratozoospermia, or defective sperm morphology, with varying severity. Multiple morphological ab
Autor:
Richard G. Kibbey, John Hwa, Michael H. Nathanson, Arya Mani, James S. Broughton, Ephraim N. Weiss, Adebowale J. Adeniran, Mateus T. Guerra, Richard P. Lifton, Miklós Sahin-Tóth, Fred S. Gorelick, Tarun Tyagi, Mitra Mani, Shrikant Mane, Bani Azari, Jeffrey R. Bender, Nelson Ugwu, Gerald Kayingo, Emily Smith, Mohsen Fathzadeh, Renata Belfort-DeAguiar, Sunny Chung, Rebecca L. Cardone, András Szabó, Fatemehsadat Esteghamat
Publikováno v:
Nature genetics
Factors that underlie the clustering of metabolic syndrome traits are not fully known. We performed whole exome sequence analysis in kindreds with extreme phenotypes of early-onset atherosclerosis and metabolic syndrome and identified novel loss-of-f
Autor:
Friedhelm Hildebrandt, Velibor Tasic, Shrikant Mane, Jameela A. Kari, Natasa Stajic, Nina Mann, Shirlee Shril, Richard P. Lifton, Zaheer Valivullah, Thomas M. Kitzler, Monkol Lek, Stefan Kohl, Sherif El Desoky, Ronen Schneider, Chen-Han W. Wu, Rufeng Dai, Amar J. Majmundar, Makiko Nakayama, Prabha Senguttuvan, Radovan Bogdanovic, Dervla M. Connaughton, Caroline M. Kolvenbach
Publikováno v:
Hum Genet
INTRODUCTION: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33–34) has been implicated in vesic
Autor:
Subhash K. Das, Dhanpat Jain, Carol Nelson-Williams, Richard P. Lifton, Gülseren Evirgen Şahin, Aysel Ünlüsoy Aksu, Silvia Vilarinho, Ferda Özbay Hoşnut
Publikováno v:
Hepatology Communications. 3:471-477
Undiagnosed liver disease remains an unmet medical need in pediatric hepatology, including children with high gamma-glutamyltransferase (GGT) cholestasis. Here, we report whole-exome sequencing of germline DNA from 2 unrelated children, both offsprin
Autor:
Richard P. Lifton, Yoshifuru Tamura, Shigeru Shibata, Qin Wang, Yoshihide Fujigaki, Kenichi Ishizawa, Jinping Li, Osamu Yamazaki, Shunya Uchida
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Calcineurin inhibitors (CNIs) are potent immunosuppressants; hypertension and hyperkalemia are common adverse effects. Activation of the renal Na-Cl cotransporter (NCC) is implicated in this toxicity; however, the mechanism is unknown. C
Autor:
Amar J. Majmundar, Daniela A. Braun, Verena Klämbt, Youying Mao, Ali Amar, Ihsan Ullah, Florian Buerger, Caroline M. Kolvenbach, Neveen A. Soliman, Ker Sin Tan, Ana C. Onuchic-Whitford, Rufeng Dai, Friedhelm Hildebrandt, Shirlee Shril, Julie D. Forman-Kay, Chin Heng Chen, Marwa M. Nabhan, Andreas Heilos, Daanya Salmanullah, Richard P. Lifton, Kaitlyn Eddy, Konstantin Deutsch, Michelle Scurr, Renate Kain, Isabel Ottlewski, Melissa H. Little, Ronen Schneider, Thomas A. Forbes, Nina Mann, Makiko Nakayama, Eugen Widmeier, Seymour Rosen, Sara E. Howden, Amy Kolb, Thomas M. Kitzler, Shrikant Mane, Ethan W. Lai, Mickael Krzeminski, Christoph Aufricht
Publikováno v:
Science Advances. 7
Nephrotic syndrome (NS) is a leading cause of chronic kidney disease. We found recessive NOS1AP variants in two families with early-onset NS by exome sequencing. Overexpression of wild-type (WT) NOS1AP, but not cDNA constructs bearing patient variant
Autor:
Jeff L. Waugh, Mahalia S.B. Frank, Xiaoyang Wang, Antigone Papavasileiou, Michael C. Sierant, Nadia Badawi, Bohao Zhang, Chongchen Zhou, Sheetal Shetty, Sheng Chih Jin, Susan M Reid, Changlian Zhu, Francisca Millan, Suzanna C. MacLennan, Julien Buratti, David J. Amor, Stephen Pastore, Lance H. Rodan, Timothy Feyma, Janice E. Brunstrom-Hernandez, Kylie E. Crompton, Megan Cho, Helen Magee, Sergio Padilla-Lopez, Julie S. Cohen, Daniela C. Zarnescu, Richard P. Lifton, Aureliane Elie, Michael C. Kruer, Qiongshi Lu, Sandra Whalen, Christopher Castaldi, John B. Vincent, Chao Gao, Irina Tikhonova, Ali Fatemi, Qinghe Xing, Dinah Reddihough, Lei Xia, Bethany Y. Norton, Shozeb Haider, Shrikant Mane, Yana A. Wilson, Dengna Zhu, Yangong Wang, Somayeh Bakhtiari, Francesc López-Giráldez, Michael C Fahey, Clare L. van Eyk, Sarah McIntyre, Jozef Gecz, Junhui Zhang, Xue Zeng, Jennifer Heim, Iona Novak, Spencer Vaughan, John P. Phillips, Sara A. Lewis, Angela E. Lin, Diane Doummar, Mark A. Corbett, Kyle Retterer, James R. Knight, Qing Shang, Boyang Li, Yiran Xu, James Liu, Boris Keren, Sandra M. Nordlie, Kaya Bilguvar, Amar H. Sheth, Dani L. Webber, Alastair H. MacLennan, Brandon S. Guida, Kelly Harper, Jesia G. Berry
Publikováno v:
Nat Genet
In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in cerebral palsy cases. Eigh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b61cf5154431c4aea3d318e3b9d69a
https://europepmc.org/articles/PMC9148538/
https://europepmc.org/articles/PMC9148538/