Results 181 to 190 of about 176,674 (312)

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

MAFA missense mutation causes familial insulinomatosis and diabetes mellitus

, 2018
The β cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro.
P Gabrovska (21875081), S Jenni (21875090), B Sipos (21875093), R Quezado (21875066), D Iacovazzo (21875063), S Ellard (13734760), R Stein (7721111), E Christ (21875087), P Chanson (21875099), G Kloppel (21875108), M Guo (9874145), M Brandle (14582945), MN Dang (21875078), K Dhatariya (13537942), W de Herder (21875102), A Frilling (21027596), F Antonio de Sousa (21875069), E Walker (13278144), M Korbonits (100247), R Caswell (21852980), MBJ Johnson (21875072), M Nieser (21875096), B Niederle (21875084), S Flanagan (16154129), M Wakeling (21875075), B Konukiewitz (21875105)   +25 more
core   +1 more source

Fungal Antimicrobial Resistance: Mechanisms, Drivers, and Global Clinical Burden

ChemFoodChem, EarlyView.
ABSTRACT Fungal antimicrobial resistance (AMR) is a growing concern for world health caused by an increase in multidrug‐resistant infections, an increase in environmental reservoirs, and the ineffectiveness of current antifungal treatments. Fungal infections continue to be largely excluded from AMR initiatives while causing over 1.6 million deaths ...
Bikash Baral
wiley   +1 more source

Novel missense mutation related To KBG syndrome

, 2020
Introduction: KBG syndrome (KBGS) (OMIM:#148050) is a rare autosomal dominant disease characterized by short stature, intellectual disability, characteristic facies, skeletal anomalies and macrodontia which mostly effect permanent upper central incisors.
SÖYLEMEZ, MEHMET ALİ, GEÇKİNLİ, BİLGEN BİLGE   +1 more
core  

Population Genomics Insights into Pharmacogenomic Differentiation Between East Asians and Europeans

Clinical Pharmacology &Therapeutics, EarlyView.
Genetic variation contributes substantially to interindividual and interpopulation differences in drug response, yet most pharmacogenomic studies remain biased toward European populations. Here, we systematically assessed pharmacogenomic variation across East Asians (EAS) and Europeans (EUR) using public genomic datasets and investigated the potential ...
Sihan Chen, Hongpu Chen, Shuhua Xu
wiley   +1 more source

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize the phenotype and genotype of a family of Becker muscular dystrophy (BMD) caused by a novel missense mutation of DMD gene. Methods and Results Clinical data of one BMD proband and the family members were collected.
Yun-qing GAO, Li-yu OU, Ya-qin LI, Jing LI, Jin-fu LIN, Ruo-jie HE, Huan LI, Yu-ling ZHU, Cheng ZHANG   +8 more
doaj  

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

, 1999
Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the ...
Meeks, JJ, Seminara, SB, Habiby, RL, Bick, DP, Kotlar, TJ, Gu, WX, Hindmarsh, PC, Achermann, JC, Crowley, WF, Sabacan, LP, Sherins, RJ, Layman, LC, Jameson, JL   +12 more
core  

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Haemophilia A in a Female German Shepherd With Homozygosity for the FVIII p.C567Y Variant in Exon 11 of the F8 Gene. [PDF]

Anim Genet
Brenig B, Pach S.
europepmc   +1 more source

LHCGR Missense Mutation [PDF]

, 2020
openaire   +1 more source