Results 111 to 120 of about 889,978 (256)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Debao Wang, the founder of nucleic acid biology and industry in People’s Republic of China

Protein & Cell, 2020
Zhongliang Ma, Xianyi Wang, Yanli Li
doaj   +1 more source

Identification and Analysis of Sex-Biased Copy Number Alterations

Health Data Science
Background: Sex difference has long been recognized at cancer incidence, outcomes, and responses to therapy. Analyzing the somatic mutation profiles of large-scale cancer samples between the sexes have revealed several potential drivers of cancer with ...
Chenhao Zhang, Yang Yang, Qinghua Cui, Dongyu Zhao, Chunmei Cui   +4 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Analysis RNA-seq and noncoding RNA

, 2016
RNA-Seq is an approach to transcriptome profiling that uses deep-sequencing technologies to detect and accurately quantify RNA molecules originating from a genome at a given moment in time.
Alberto Arrigoni, I. Panzeri, Raoul J. P. Bonnal, Massimiliano Pagani, V. Ranzani, R. J. P. Bonnal, Ilaria Panzeri, Valeria Ranzani, M. Pagani, G. Rossetti, A. Arrigoni, Grazisa Rossetti, Sergio Abrignani, S. Abrignani   +13 more
core   +1 more source

Chicken Pulmonary MicroRNAs Targeting the PB2 (Segment 1) of Avian Influenza Virus

Animal Research and One Health, EarlyView.
The PB2 segment of H5N1 is essential for replication and host adaptation. We screened 200 miRNAs and identified five (gga‐miR‐17‐3p, gga‐miR‐29a‐5p, gga‐miR‐1718, gga‐miR‐16c‐5p, and gga‐miR‐1744‐5p) using thermodynamic stability of heteroduplex, seed sequence complementarity, conservation, and accessibility, offering insights into host antiviral ...
Akanksha Choudhary, Nidhishree N. S, Rakesh Kumar Pundir, Muhasin Asaf V. N, Anamika Mishra, Ashwin Ashok Raut, Megha Agarwal, Amod Kumar   +7 more
wiley   +1 more source

Long Noncoding RNAs in Metabolic Syndrome Related Disorders

Mediators of Inflammation, 2016
Ribonucleic acids (RNAs) are very complex and their all functions have yet to be fully clarified. Noncoding genes (noncoding RNA, sequences, and pseudogenes) comprise 67% of all genes and they are represented by housekeeping noncoding RNAs (transfer RNA (
Magdalena Losko, Jerzy Kotlinowski, Jolanta Jura   +2 more
doaj   +1 more source

LncRSFD Alternative Splicing Modulates the Proliferation and Differentiation of Adipocytes Through Sponging miRNAs

Animal Research and One Health, EarlyView.
This study identified a molecule named lncRSFD, which is highly expressed in sheep adipose tissues. The lncRSFD gene generates two distinct transcript variants via alternative splicing: lncRSFD‐L and lncRSFD‐S. Functionally, lncRSFD alternative splicing (lncRSFD‐L/S) promotes the proliferation, differentiation, and lipid metabolism of adipocytes ...
Jinpeng Wang, Qiuyang Li, Zhiying Wang, Shan Zhang, Kassahun Bekana, Qingfeng Zhang, Juanshan Zheng, Hongwei Xu, Xianyong Lan, Chuanying Pan   +9 more
wiley   +1 more source

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

Animal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang, Weiran Wu, Qingqing Cai, Jiaxing Wang, Qi Gao, Muhammad Iftikhar, Yulin Bi, Hao Bai, Lihong Gu, Guobin Chang, Shihao Chen   +10 more
wiley   +1 more source