Results 41 to 50 of about 1,415,866 (266)

The genetics of Ménière's disease.

The application of clinical genetics, 2015
Our understanding of the genetic basis of Ménière's disease (MD) is still limited. Although the familial clustering and the geographical and racial differences in incidence strongly suggest a certain role for genetic factors in the development of MD, no convincing evidence for an association with any gene exists, at present.
Giuseppe Chiarella, Claudio Petrolo, CASSANDRO, Ettore   +2 more
openaire   +2 more sources

Human Genetic Diseases [PDF]

BioMed Research International, 2015
There is no question that the rapid advance in genetic technology is changing our viewpoint on medical practice, which is dramatically improving the diagnosis, prognosis, and therapy of human genetic disease. In particular, the next-generation sequencing (NGS) technologies, such as exome sequencing and whole-genome sequencing, and gene editing ...
Hao Deng, Peter Riederer, Han-Xiang Deng, Weidong Le, Wei Xiong, Yi Guo   +5 more
openaire   +2 more sources

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue

EMBO Molecular Medicine
Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene, leading to impaired conversion of monolysocardiolipin (MLCL) into mature cardiolipin (CL).
Bauke V Schomakers, Adriana S Passadouro, Maria M Trętowicz, Pelle J Simpson, Yorrick R J Jaspers, Michel van Weeghel, Iman Man Hu, Cathelijne M E Lamboo, Denise Cloutier, Barry J Byrne, Jan Bert van Klinken, Paul M L Janssen, Sander R Piersma, Connie R Jimenez, Frédéric M Vaz, Gajja S Salomons, Jolanda van der Velden, Riekelt H Houtkooper, Signe Mosegaard   +18 more
doaj   +1 more source

A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report

Journal of Biochemical and Clinical Genetics
Background: The spleen tyrosine kinase (SYK) gene, located on chromosome 9q22.2, encodes a crucial cytoplasmic non-receptor tyrosine kinase involved in immune cell signaling, particularly in B and T cell receptor pathways. Mutations in SYK are linked to &
Aslı Guner Ozturk Demir, Akif Ayaz, Muhsin Elmas   +2 more
doaj   +1 more source

Claudin‐6 Protein Expression in Atypical Teratoid/Rhabdoid Tumors Is Strongly Enriched in the Molecular Subgroup AT/RT‐TYR

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Claudin‐6 has emerged as a promising immunotherapeutic target, yet protein‐level data in atypical teratoid/rhabdoid tumors (AT/RTs) have been inconsistent. We analyzed 36 well‐characterized AT/RT samples and found membranous claudin‐6 protein expression in 58% of cases, with striking enrichment in the molecular subgroup AT/RT‐TYR (100%) and ...
Victoria E. Fincke, Christian Thomas, Michael C. Frühwald, Pascal D. Johann, Martin Hasselblatt   +4 more
wiley   +1 more source

Genetics of Parkinson's disease

Dialogues in Clinical Neuroscience, 1998
A genetic contribution to the etiology of Parkinson's disease (PD) is now well established, based on the demonstration of a familial aggregation of the disease as demonstrated by several case–control and twin studies, and on the description of large multigenerational families, in whom PD is inherited in a Mendelian fashion.
openaire   +7 more sources

Immuno-metabolic stress responses control longevity from mitochondrial translation inhibition in C. elegans

Nature Communications
Perturbing mitochondrial translation represents a conserved longevity intervention, with proteostasis processes proposed to mediate the resulting lifespan extension.
Iman Man Hu, Marte Molenaars, Yorrick R. J. Jaspers, Bauke V. Schomakers, Michel van Weeghel, Amber Bakker, Melanie Modder, Joseph P. Dewulf, Guido T. Bommer, Arwen W. Gao, Georges E. Janssens, Riekelt H. Houtkooper   +11 more
doaj   +1 more source

Time Toxicity in Wilms Tumor: Quantifying the Burden of Healthcare Interaction in the First Year After Diagnosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Wilms tumor (WT) treatment imposes a significant time burden on patients and their families. Time toxicity is a patient‐centered metric that quantifies the burden of healthcare interaction. We sought to define time toxicity in the first year after diagnosis of WT and hypothesized that it would increase as tumor stage and treatment ...
Caleb Q. Ashbrook, Veerain Gupta, Nicholas J. Clark, Vijay Rings, Lauren E. Corona, Douglass B. Clayton, Daniel J. Benedetti   +6 more
wiley   +1 more source

Impact of GATA2 gene polymorphism (rs2335052 A > G) on coronary artery disease susceptibility

Egyptian Journal of Medical Human Genetics
Background The transcription factor GATA binding protein 2 (GATA2) is essential for the gene expression profile in vascular endothelial cells. GATA2 located on 3q21, encodes a transcription factor essential for the production and differentiation of ...
Sailaja Maddhuri, Chaitanya Kumar Bhukya, Gummadi Akhil, V. Gayathri Snigdha, P. Priyanka, Amaresh Rao Malempati, Vijaya Lakshmi Bodiga   +6 more
doaj   +1 more source

Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy – a case report

BMC Medical Genetics, 2020
Background Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders.
Adrian Giucă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu, Ruxandra Jurcuţ   +8 more
doaj   +1 more source