Results 191 to 200 of about 32,161 (285)

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

The Austronesian and the Micronesian Comparative Dictionaries as CLDF datasets. [PDF]

Sci Data
Smith AD, Forkel R, Blumenfeld L.
europepmc   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

From Covalent Traps to Fluorescent Beacons: The Expanding Arsenal of Chemical Probes for Studying Ubiquitin and Ubiquitin‐Like Proteins

Angewandte Chemie, EarlyView.
A large variety of chemistry‐based ubiquitin probes have been developed. ABSTRACT Ubiquitin (Ub) and ubiquitin‐like proteins (Ubls) orchestrate diverse cellular processes through reversible post‐translational modification of target proteins. Their conjugation is governed by a cascade of E1 activating, E2 conjugating, and E3 ligating enzymes, while ...
Saibal Chanda, Wenshe Ray Liu
wiley   +2 more sources

Japanese-as-a-foreign-language acquisition affects native Chinese lexical processing among Chinese learners. [PDF]

Front Psychol
Cai F, Fei X, Song Q.
europepmc   +1 more source

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone, Claudia Rigamonti, Francesca Brasca, Donatella Milani, Chiara Ranci Ortigosa, Maria Iascone, Lucrezia Goisis, Annalaura Torella, Maria Antonella Costantino   +8 more
wiley   +1 more source

Evolution is coupled with branching across many granularities of life. [PDF]

Proc Biol Sci
Douglas J, Bouckaert R, Harris SC, Carter CW, Wills PR.   +4 more
europepmc   +1 more source

Pro‐Inflammatory c‐Met+ CD4 T Cells in Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Hepatocyte growth factor (HGF) binds exclusively the c‐Met surface receptor, and the HGF/c‐Met axis regulates T cell function in autoimmune diseases. We analyzed c‐Met expression on human CD4 T cells in the blood and cerebrospinal fluid (CSF) from patients with multiple sclerosis (MS) versus non‐inflammatory neurological disease (NIND), to ...
Gautier Breville, Mahdia Benkhoucha, Ayman Rezk, Ngoc Lan Tran, Isis Senoner, Amit Bar‐Or, Patrice H. Lalive   +6 more
wiley   +1 more source

A phylogenetic classification of the Je language family. [PDF]

Open Res Eur
Ferraz Gerardi F, Wientzek T, Roksandic I, Gregorio de Souza J, Orphão de Carvalho F.   +4 more
europepmc   +1 more source

Engineering Tertiary Lymphoid Structures: Nanomedicine, Bioengineering, and Biomaterials for Precision Immunotherapy

Advanced NanoBiomed Research, EarlyView.
This review explains how biomaterials and nanoparticles can be used to induce or modulate tertiary lymphoid structures (TLSs), which are ectopic immune hubs that form in nonlymphoid tissues during chronic disease and cancer. By comparing different methods, the article highlights design principles for modeling TLSs or recapitulating specific TLS ...
Shaza Karaman, Mei ElGindi, Jeremy Teo
wiley   +1 more source