Results 101 to 110 of about 16,675 (221)

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source

Impact of ambient air pollution and socio-environmental factors on the health of children younger than 5 years in India: a population-based analysisResearch in context

The Lancet Regional Health - Southeast Asia
Summary: Background: Ambient air pollution and household environmental factors affect child health, particularly in low-income and middle-income countries.
Paul E. George, Nandan Thakkar, Sandul Yasobant, Deepak Saxena, Jay Shah   +4 more
doaj   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients. [PDF]

Clin Genet
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Bergès C, Sauvestre C, Naudion S, Delorme CV, Smol T, Rama M, Moortgat S, Maystadt I, Kersseboom R, Wilke M, Barakat TS, Vial Y, Perrin L, Passemard S, Ahmad F, Umair M, Haack T, Grimmel M, Kuechler A, Slavotinek A, Devine P, Hodoglugil U, Zafar F, Afzal E, Dudding-Byth T, Jouret G, Herissant L, Efthymiou S, Houlden H, Legendre M, Michaud V.   +30 more
europepmc   +2 more sources

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer, Kristina Lagerstedt‐Robinson, Daniel Nilsson, Cilla Söderhäll, Björn Hammar, Erik Björck   +5 more
wiley   +1 more source

A review of current knowledge concerning PM2:5 chemicalcomposition, aerosol optical properties and theirrelationships across China

, 2017
To obtain a thorough knowledge of PM2. 5 chemical composition and its impact on aerosol optical properties across China, existing field studies conducted after the year 2000 are reviewed and summarized in terms of geographical, interannual and ...
Zhang,LM(Zhang,Leiming), Cao,JJ(Cao,Junji), Zhang,Leiming, Zhang,RJ(Zhang,Renjian), Tao,J(Tao,Jun)   +4 more
core   +1 more source

Neonatal Diamond‐Blackfan anemia with persistent neutropenia caused by an RPS15A variant

Pediatric Investigation, EarlyView.
Hong Zheng, Kaimei Wang, Jian Wang, Jianpei Fang, Dunhua Zhou, Kunyin Qiu   +5 more
wiley   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations

Human Genome Variation
Here we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient’s ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G>T; pathogenic; PVS1 + PM2 
Wenjuan Li, Shujing Zeng, Jun Jiang, Bin Liu   +3 more
doaj   +1 more source

Exploring Planetary Health Resilience to Air Pollution Across Exposure Durations Using Nationally Representative Data from Korea

Proceedings
According to 2020 OECD data, PM2 [...]
Sujin Ma, Jin-Won Noh
doaj   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source