Results 61 to 70 of about 1,791,159 (252)

Association between ABCB4 variants and intrahepatic cholestasis of pregnancy

Scientific Reports
The ABCB4 gene encodes multidrug resistance protein 3(MDR3), which is a phosphatidylcholine(PC) transfer enzyme that transfers lecithin from the inner part of the phospholipid bilayer to the extracellular bile.
Dekun Zhang, Yuhong Li, Shufeng He, Jing Shu, Tiechen Li, Qing Sun   +5 more
doaj   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay

BMC Genomics, 2023
Background Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 gene or PKD2 gene.
Xuyan Liu, Xiaomeng Shi, Qing Xin, Zhiying Liu, Fengjiao Pan, Dan Qiao, Mengke Chen, Yiyin Zhang, Wencong Guo, Changying Li, Yan Zhang, Leping Shao, Ruixiao Zhang   +12 more
doaj   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

FEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti, Markus J. T. Ojanen, Mataleena Parikka, Otto Kauko, Mika Rämet, Vesa P. Hytönen   +5 more
wiley   +1 more source

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

PLoS Genetics, 2020
Elucidating the functional consequence of molecular defects underlying genetic diseases enables appropriate design of therapeutic options. Treatment of cystic fibrosis (CF) is an exemplar of this paradigm as the development of CFTR modulator therapies ...
Anya T Joynt, Taylor A Evans, Matthew J Pellicore, Emily F Davis-Marcisak, Melis A Aksit, Alice C Eastman, Shivani U Patel, Kathleen C Paul, Derek L Osorio, Alyssa D Bowling, Calvin U Cotton, Karen S Raraigh, Natalie E West, Christian A Merlo, Garry R Cutting, Neeraj Sharma   +15 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Exonic sequencing identifies TLR1 genetic variation associated with mortality in Thais with melioidosis

Emerging Microbes and Infections, 2019
Melioidosis, an infectious disease caused by the bacterium Burkholderia pseudomallei, is a common cause of sepsis in Southeast Asia. We investigated whether novel TLR1 coding variants are associated with outcome in Thai patients with melioidosis.
Shelton W. Wright, Mary J. Emond, Lara Lovelace-Macon, Deirdre Ducken, James Kashima, Viriya Hantrakun, Wirongrong Chierakul, Prapit Teparrukkul, Narisara Chantratita, Direk Limmathurotsakul, T. Eoin West   +10 more
doaj   +1 more source

Variant position percentage/numbers across sequence classes.

, 2017
(A) Intergenic—variant resides in the intergenic region, not included in upstream or downstream regions. Intronic—variant overlaps an intron. Exonic—variant overlaps a coding region.
Myo Pa Pa Thet Hnin Htwe Aung (3608162), Tetsuo Hirata (3608156), Tanzila Afrin (3470297), Miwa Higashiarakawa (3608171), Teruhisa Tanaka (3608168), Eiji Nagayasu (388723), Akina Hino (650213), Wah Win Htike (3608159), Haruhiko Maruyama (388726), Ryusei Tanaka (579668), Taisei Kikuchi (207213), Jiro Fujita (84850), Kyu Kyu Win (3608165)   +12 more
core   +1 more source

Single‐Cell Transcriptomic Analysis of Tumor Heterogeneity and the Microenvironment in Pseudomyxoma Peritonei

Advanced Science, EarlyView.
This study presents a single‐cell atlas of pseudomyxoma peritonei spanning primary and paired metastatic lesions. Distinct epithelial substates, stromal remodeling, immune exclusion, lipid metabolic reprogramming, and a candidate angiogenic network were identified in metastatic lesions.
Xi Li, Lei Wang, Lei Ai, Zimeng Li, Zhaochangci Chen, Yuchen Luo, Tianran Zhang, Mengjia Liao, Songhao Wang, Jiajia Cui, Ke Liu, Chengxian Guo, Guodong Liu, Jiye Yin, Wei Wu   +14 more
wiley   +1 more source

Identification of POMC exonic variants associated with substance dependence and body mass index. [PDF]

PLoS ONE, 2012
Risk of substance dependence (SD) and obesity has been linked to the function of melanocortin peptides encoded by the proopiomelanocortin gene (POMC).POMC exons were Sanger sequenced in 280 African Americans (AAs) and 308 European Americans (EAs).
Fan Wang, Joel Gelernter, Henry R Kranzler, Huiping Zhang   +3 more
doaj   +1 more source