Results 81 to 90 of about 225,081 (303)

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria

Biomedicines
Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement.
Xin Liu, Xinhua Liu, Jinfeng Liu, Junhong Guo, Danyao Nie, Jiantao Wang   +5 more
doaj   +1 more source

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes [PDF]

, 2016
Background: Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians.
Campbell, Desmond, Cheng, Guo, Cherny, Stacey S., Chung, Patrick H. Y., Garcia-Barcelo, Maria-Mercè, Ngo, Ngoc Diem, Sham, Pak C., So, Man-ting, Tam, Paul K., Tang, Clara S. M., Tran, Ngoc Son, Wong, John K. L., Yeung, Fanny   +12 more
core   +1 more source

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome

Pediatric Blood &Cancer, EarlyView.
Nicholas A. Borja, Anuja Sule, Katie Ann McMullen, Aditi Dhir, Matthew D. Hall, Heather J. McCrea, Sakir Humayun Gultekin, Mustafa Tekin, Bradley Gampel   +8 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research [PDF]

, 2016
Accurate variant calling in next generation sequencing (NGS) is critical to understand cancer genomes better. Here we present VarDict, a novel and versatile variant caller for both DNA- and RNA-sequencing data.
Ahdesmaki, Miika, Barrett, J. Carl, Chapman, Brad, Dougherty, Brian, Dry, Jonathan R., Hofmann, Oliver, Johnson, Justin, Lai, Zhongwu, Markovets, Aleksandra, McEwen, Robert   +9 more
core   +2 more sources

Performance of Exome Sequencing for Pharmacogenomics [PDF]

Personalized Medicine, 2015
We present the potential false-negative rate of exome sequencing for the detection of pharmacogenomic variants.Depth of coverage of 1928 pharmacogenomically relevant variant positions was ascertained from 62 exome-sequenced samples.Approximately 14% of the 1928 variant locations examined had inadequate depth of coverage (
Londin, Eric R, Clark, Peter, SPONZIELLO, Marialuisa, Kricka, Larry J, FORTINA, PAOLO, Park, Jason Y.   +5 more
openaire   +3 more sources

Integrated Transcriptomics Reveals Evolutionary Trajectories and Cell Density‐Dependent Mechanisms in Aldosterone‐Producing Adenomas

Advanced Science, EarlyView.
Aldosterone‐producing adenomas (APAs) develop via two distinct paths: directly from adrenal zona glomerulosa (zG) cells, or stepwise from zG cells through aldosterone‐producing micronodules (APMs) before progressing to APAs. Advanced single‐cell and spatial analyses identified distinct cell states linked to oxidative stress and cell–cell interactions ...
Zhuolun Sun, Changying Jing, Martina Tetti, Siyuan Gong, Jia Wei, Yingxian Pang, Martin Reincke, Tracy Ann Williams   +7 more
wiley   +1 more source

Polymorphism of the cold receptor gene TRPM8 in native populations of Siberia: putative selective role of rs11563208 polymorphism in Northeast Asia

Вавиловский журнал генетики и селекции, 2017
The TRPM8 gene encodes the cold-activated receptor TRPM8, which has an important role in cold adaptation as well as in metabolic and immune responses. Previously, it has been found that polymorphic variants of the TRPM8 gene, which are present in human ...
B. A. Malyarchuk, M. V. Derenko
doaj   +1 more source

Testicular mRNA‐LNP Delivery: A Novel Therapy for Genetic Spermatogenic Disorders

Advanced Science, EarlyView.
In the current study, we developed a novel therapy for genetic spermatogenic disorders. It was revealed that in vivo delivery of mRNA LNP3 could restore spermatogenesis in Msh5D486Y/D486Y and Maps KO mouse models with meiotic arrest. Notably, the offspring without genomic integration was born using ICSI derived from the rescue of Msh5D486Y/D486Y mouse ...
Chenwang Zhang, Nan Liang, Wenbo Li, Shuai Xu, Peng Li, Wanze Ni, Na Li, Sha Han, Ningjing Ou, Haowei Bai, Yuxiang Zhang, Furong Bai, Yifan Sun, Dewei Qian, Xinjie Bu, Erlei Zhi, Ruhui Tian, Yuhua Huang, Jingpeng Zhao, Fujun Zhao, Hao Chen, Zheng Li, Chencheng Yao   +22 more
wiley   +1 more source

Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient [PDF]

, 2018
As in other brain tumors, multiple recurrences after complete resection and irradiation of supratentorial ependymoma are common and frequently result in patient death.
Dahiya, Sonika, Dunn, Gavin P, Fulton, Robert S, Li, Tiandao, Mardis, Elaine R, Miller, Christopher A, Rubin, Joshua B, Smyth, Matthew D   +7 more
core   +3 more sources