Results 81 to 90 of about 227,823 (308)

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

A High‐Sensitivity Circulating Nucleic Acid Sequencing Assay for Assessing Treatment Response to Alectinib in a Pediatric Patient With ALK‐Rearranged Non–Small Cell Lung Cancer

Pediatric Blood &Cancer, EarlyView.
Alberto D. Guerra, Nicholas F. Evageliou, Vandana Batra, Kristen L. Dalton, Stephanie Ortel, Usman Ashraf, Tricia R. Bhatti, Lisa J. States, Lea F. Surrey, Theodore W. Laetsch   +9 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

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

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 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

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. [PDF]

, 2015
The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly.
Daniel H. Cohn, Deborah A. Nickerson, Deborah Krakow, Ivan Duran, Jay Shendure, Michael J. Bamshad, null null, Ralph S. Lachman, Richard B. Vallee, S. Paige Taylor, Stanley F. Nelson, Sulin Wu, Tiago J. Dantas   +12 more
core   +2 more sources

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

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]

, 2015
Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Anderson, G, Cale, CM, Chalasani, A, Chan, E, Duchen, MR, Gilmour, KC, Hambleton, S, Jacques, S, Osellame, LD, Plagnol, V, Qasim, W, Rahman, S, Shahni, R, Taanman, JW, Wadatilake, Y   +14 more
core   +1 more source

Wessim: a whole-exome sequencing simulator based on in silico exome capture [PDF]

Bioinformatics, 2013
Abstract Summary: We propose a targeted re-sequencing simulator Wessim that generates synthetic exome sequencing reads from a given sample genome. Wessim emulates conventional exome capture technologies, including Agilent’s SureSelect and NimbleGen’s SeqCap, to generate DNA fragments from genomic target regions. The target regions can be
Sangwoo, Kim, Kyowon, Jeong, Vineet, Bafna   +2 more
openaire   +3 more sources