Results 171 to 180 of about 50,129 (215)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Genetic diversity, codon usage, and evolutionary dynamics of bovine parainfluenza virus type-3. [PDF]

J Vet Med Sci
Bi J, Li K, Ma Q, Ren Y, Yuan Z, Li J, Xie C.   +6 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Contrasting genome composition and codon usage in <i>Listeria monocytogenes</i> temperate versus virulent phages. [PDF]

Virus Evol
Kobakhidze S, Song A, Tang YW, Kotetishvili M.   +3 more
europepmc   +1 more source

Unconventional codon usage bias mediates mRNA translational dynamics in macrophages. [PDF]

PLoS Biol
Luo S, Wang Q, Chen A, Huang L, Liu Y, Zong X, Mao Y.   +6 more
europepmc   +1 more source

A viral codon usage strategy enhances antigen production and protection in SFTSV mRNA vaccination. [PDF]

NPJ Vaccines
Cha I, Yamada Y, Kim D, Kang S, Yang WS, Shin WJ, Ryder A, Lewis M, Chung C, Cho NH, Choi YK, Li J, Lai CJ, Jung JU.   +13 more
europepmc   +1 more source

MicroCT reinvestigation of the only articulated fossil anostomid fish reveals synonymy of Arhinolemur Ameghino, 1898 and Megaleporinus Ramirez et al., 2017

The Anatomical Record, EarlyView.
Abstract Arhinolemur scalabrinii† Ameghino, 1898 was originally described as a strepsirrhine primate (Mammalia) but has been recognized as an anostomid fish since 2012. It remains the only extinct anostomid species known from complete cranial material.
Karen M. Panzeri, Humberto L. Andrelino, Sergio Bogan, José P. O'Gorman, Federico Agnolín, Brian L. Sidlauskas, Nahuel Vega, Agustín G. Martinelli, José L. Birindelli   +8 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

Codon Usage Bias Analysis in the Chloroplast Genome of <i>Actinostemma tenerum</i> (Cucurbitaceae). [PDF]

Curr Issues Mol Biol
Mu JJ, Zhang JS.
europepmc   +1 more source

ANK1 and EPB41 Variants and the Risk of Steroid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source