Results 31 to 40 of about 590,083 (218)

Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Molecular Genetics & Genomic Medicine, 2021
Background Classical Ehlers‐Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2.
Na Ma, Zhenhua Zhu, Jing Liu, Ying Peng, Xiaomeng Zhao, Weiling Tang, Zhengjun Jia, Hui Xi, Bodi Gao, Hua Wang, Juan Du   +10 more
doaj   +1 more source

Bayesian Estimation of Nonsynonymous/Synonymous Rate Ratios for Pairwise Sequence Comparisons [PDF]

, 2014
The nonsynonymous/synonymous rate ratio (ω = dN/dS) is an important measure of the mode and strength of natural selection acting on nonsynonymous mutations in protein-coding genes. The simplest such analysis is the estimation of the dN/dS ratio using two
dos Reis, M, Yang, Z, Angelis, K
core   +1 more source

DataSheet_1_Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism.pdf

, 2022
BackgroundCongenital iodide transport defect (ITD) is an uncommon cause of dyshormonogenic congenital hypothyroidism characterized by the absence of active iodide accumulation in the thyroid gland. ITD is an autosomal recessive disorder caused by loss-of-
Liliana Muñoz (12496756), Malvina Signorino (12496759), Graciela Testa (12496762), Carlos Eduardo Bernal Barquero (12496741), Mariano Martín (12496744), Gabriela Sobrero (12496753), Mirta Beatriz Miras (12496771), Romina Celeste Geysels (12496738), Victoria Peyret (12496747), Ana María Masini-Repiso (12496768), Juan Pablo Nicola (8811692), Martina Nocent (12496750), Ricardo Belisario Castro (12496765)   +12 more
core   +1 more source

A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

BMC Medical Genomics, 2021
Background Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants.
Weifeng Zhang, Zhiyong Liu, Yiming Lin, Ruiquan Wang, Jinglin Xu, Ying He, Fengfeng Zhang, Lianqiang Wu, Dongmei Chen   +8 more
doaj   +1 more source

A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses [PDF]

, 2015
The identification of quantitative trait loci (QTL) such as height and their underlying causative variants is still challenging and often requires large sample sizes.
Mirjam Frischknecht, Elisabeth Dietschi, Plattet, Philippe, Vidhya Jagannathan, Stefan Rieder, Philippe Plattet (330823), Pacholewska, Alicja Elzbieta, Christine Flury, Alicja Pacholewska (705841), Dietschi, Elisabeth, Cord Drögemüller, Frischknecht, Mirjam, Iris Bachmann, Alicja Pacholewska, Iris Bachmann (286075), Elisabeth Dietschi (211839), Markus Neuditschko (123577), Christine Flury (164251), Cord Drögemüller (132266), Neuditschko, Markus, Philippe Plattet, Pacholewska, Alicja, Wade, Claire, Flury, Christine, Markus Neuditschko, Tosso Leeb, Mirjam Frischknecht (392348), Heidi Signer-Hasler (164244), Rieder, Stefan, Stefan Rieder (81673), Bachmann, Iris, Jagannathan, Vidhya, Drögemüller, Cord, Leeb, Tosso, Vidhya Jagannathan (13914), Signer-Hasler, Heidi, Heidi Signer-Hasler, Tosso Leeb (81674)   +37 more
core   +3 more sources

Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938)

Сахарный диабет, 2019
An erratum on «A synonymous variant in GCK gene as a cause of gestational diabetes mellitus» by Natalya A. Zubkova, Petr M. Rubtsov, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasiliev, Vasily M. Petrov, Anatoly N. Tiulpakov (2019)
Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov   +7 more
doaj   +1 more source

Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report

Immunity, Inflammation and Disease, 2023
Background X‐linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK).
Cindy Srinivasan, Afshin Shameli, Bruce Ritchie, Adil Adatia   +3 more
doaj   +1 more source

Surveillance for feline herpesvirus type 1 mutation and development of resistance in cats treated with antiviral medications

Frontiers in Veterinary Science, 2023
Feline herpesvirus type 1 (FHV-1) commonly causes ocular surface disease in cats and is treated with antiviral medications targeting viral DNA polymerase (UL30/42).
Andrew C. Lewin, Nikole E. Ineck, Melanie A. Mironovich, Morgan E. Marino, Chin-Chi Liu, Ugochi Emelogu, Erinn P. Mills, Pilar Camacho-Luna, Renee T. Carter   +8 more
doaj   +1 more source

A synonymous variant in GCK gene as a cause of gestational diabetes mellitus

Сахарный диабет, 2019
The diagnosis of MODY as a subtype of gestational diabetes mellitus (GDM) is important for an adequate management during pregnancy and the postnatal period.
Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov   +7 more
doaj   +1 more source

Analysis of genetic variation in human papillomavirus type 16 E1 and E2 in women with cervical infection in Xinjiang, China

BMC Medical Genomics, 2021
Background Xinjiang is one of the regions with a high incidence of cervical cancer, and the genetic variation of human papillomavirus may increase its ability to infect the human body and enhance virus-mediated immune escape ability.
Luyue Wang, Fang Wang, Shaowei Fu, Chunhe Zhang, Xiangyi Zhe, Hongtao Li, Dongmei Li, Renfu Shao, Zemin Pan   +8 more
doaj   +1 more source