Results 161 to 170 of about 317,261 (329)

PCGF3/5–PRC1 initiates Polycomb recruitment in X chromosome inactivation

Science, 2017
Mafalda Almeida, G. Pintacuda, O. Masui, Yoko Koseki, M. Gdula, A. Cerase, David Brown, A. Mould, Cassandravictoria Innocent, M. Nakayama, L. Schermelleh, T. Nesterova, H. Koseki, N. Brockdorff   +13 more
semanticscholar   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source

Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids

Nature Communications
While random X-chromosome inactivation in female cells of placental mammals silences one allele of the majority of X-chromosomal genes, a considerable fraction is only incompletely and variably inactivated.
M. Bertin, H. Todorov, S. Frank, S. Käseberg, R. Menon, E. Gabassi, C. Foerster, N. Bobon, F. Furlanetto, A. Soliman, H. M. B. Ibrahim, V. Engelhardt, L. Birschmann, H. Brennenstuhl, B. Lohrer, A. Mas-Sanchez, E. Cesare, J. Winter, J. Krummeich, J. Winkler, B. Winner, E. Weis, S. Diederich, K. Luck, P. Lunt, S. Gerber, P. Baumann, N. Elvassore, B. Berninger, MF Basilicata, S. Schweiger, S. Falk, M. Karow   +32 more
doaj   +1 more source

Abnormal X chromosome inactivation and tumor development

Cellular and Molecular Life Sciences, 2020
Dan Wang, Le Tang, Yingfen Wu, Chunmei Fan, Shanshan Zhang, Bo Xiang, Ming Zhou, Xiaoling Li, Yong Li, Gui-yuan Li, W. Xiong, Zhaoyang Zeng, Can Guo   +12 more
semanticscholar   +1 more source

Kidney Hematopoietic Stem and Progenitor Cells Contribute to Myeloid Development and Pathology in Lupus Nephritis

Arthritis &Rheumatology, Accepted Article.
Objectives The hematopoietic system maintains homeostasis by balancing myeloid and lymphoid cell production in the bone marrow (BM). In response to increased hematopoietic demand, extramedullary hematopoiesis (EMH) may occur in non‐lymphoid organs. We investigated the role of EMH and kidney‐resident hematopoietic stem and progenitor cells (HSPCs) in ...
Hansol Yi, Seyoung Jung, Jeong Ho Joo, Young‐Eun Kim, Heounjeong Go, Yong‐Gil Kim, Chang‐Keun Lee, Bin Yoo, Jeong Seok Lee, Seokchan Hong   +9 more
wiley   +1 more source

Unusual maintenance of X chromosome inactivation predisposes female lymphocytes for increased expression from the inactive X

Proceedings of the National Academy of Sciences of the United States of America, 2016
Jianle Wang, C. Syrett, Marianne C. Kramer, Arindam Basu, M. Atchison, M. Anguera   +5 more
semanticscholar   +1 more source