Results 61 to 70 of about 2,755,429 (311)

Evidence for loss of heterozygosity in human psoriatic lesions [PDF]

British Journal of Dermatology, 1998
Psoriasis, a disease of human skin, is characterized by abnormal differentiation and hyperproliferation of keratinocytes; it has a genetic background. Using 11 highly polymorphic microsatellite markers on eight chromosome arms, we performed an allelotype analysis in 14 psoriatic plaques, in order to reveal any chromosome deletions involved in the ...
Zachos, G., Koumantaki, E., Vareltzidis, A., Spandidos, D.A.   +3 more
openaire   +4 more sources

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

mSphere of Influence: Considering Complex Mutational Processes That Shape Microbial Virulence

mSphere, 2019
Matt Anderson works in the field of genetics and infectious disease, with a focus on the human fungal pathogen Candida albicans. In this mSphere of Influence article, he reflects on how two papers, “Gene Flow Contributes to Diversification of the Major ...
Matthew Zack Anderson
doaj   +1 more source

ADD3 Deletion in Glioblastoma Predicts Disease Status and Survival

Frontiers in Oncology, 2021
Loss of heterozygosity (LOH) on chromosome 10 frequently occurs in gliomas. Whereas genetic loci with allelic deletion often implicate tumor suppressor genes, a putative tumor suppressor Adducin3 (ADD3) mapped to chromosome 10q25.2 was found to be ...
Karrie Mei-Yee Kiang, Stella Sun, Gilberto Ka-Kit Leung   +2 more
doaj   +1 more source

The Role of Nitric Oxide in Resolution of Vasospasam Corresponding with Cerebral Vasospasms after Subarachnoid Haemorrhage: Animal Model

Biomolecules & Biomedicine, 2008
Intracranial aneurysmal rupture is the common cause of spontaneous subarachnoid haemorrhage (SAH). This haemorrhage is typically diffuse and located in extracerebral subarachnoid space in which main cerebral arterial branches are situated.
Kemal Dizdarević
doaj   +1 more source

Loss of heterozygosity and carrier identification in Duchenne muscular dystrophy: a familiar case with recombination event

Revista Ciencias de la Salud, 2012
Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive disease characterizedby muscular weakness. It is caused by mutations on the dystrophin gen.
Fonseca-Mendoza Dora Janeth, Mateus-Arbeláez Heidi, Silva-Aldana Claudia Tamar   +2 more
doaj  

A simple approach for classifying new mutations as somatic or germinal in DNA samples lacking paired tissue

BioTechniques, 2014
When studying mutations in DNA samples, determining whether novel sequence changes are somatic mutations or germline polymorphisms can be difficult. Here we describe a novel and very simple approach for identification of somatic mutations and loss of ...
Ignacio Erquiaga, Cristina Hurtado, Paula Aranaz, Francisco J. Novo, José L. Vizmanos   +4 more
doaj   +1 more source

Loss of heterozygosity at 7p in Wilms’ tumour development [PDF]

British Journal of Cancer, 2000
Chromosome 7p alterations have been implicated in the development of Wilms' tumour (WT) by previous studies of tumour cytogenetics, and by our analysis of a constitutional translocation (t(1;7)(q42;p15)) in a child with WT and radial aplasia. We therefore used polymorphic microsatellite markers on 7p for a loss of heterozygosity (LOH) study, and found ...
Paul A. Reynolds, M Boavida, Rachel M. Powlesland, Keith W. Brown, S Pires, Adrian Charles, Karim Malik   +6 more
openaire   +2 more sources

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz, Umar Zubair, Luca Schierbaum, Amy Tam, Nicole Battaglia, Joshua Rong, Habibah A. P. Agianda, Julian E. Alecu, Kathryn Yang, Darius Ebrahimi‐Fakhari   +9 more
wiley   +1 more source

High-Resolution Detection of Loss of Heterozygosity of Dinucleotide Microsatellite Markers

BioTechniques, 2001
Dinucleotide microsatellite markers are frequently investigated to study inheritance, genetic stability, and allele frequency distribution in a wide variety of genetic disorders. Previous studies have encountered significant problems regarding resolution
Rebecca N. Hourihan, Gerald C. O’Sullivan, John G. Morgan   +2 more
doaj   +1 more source