Results 31 to 40 of about 237,110 (353)

GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis

Frontiers in Immunology, 2022
The transcription factor GATA2 plays a key role in the survival and self-renewal of hematopoietic stem and progenitor cells. Autosomal dominant variants in GATA2 cause a broad spectrum of heterogeneous phenotypes.
Oded Shamriz, Oded Shamriz, Naseem Zahalka, Amos J. Simon, Amos J. Simon, Atar Lev, Atar Lev, Ortal Barel, Ortal Barel, Nofar Mor, Nofar Mor, Yuval Tal, Michael J. Segel, Michael J. Segel, Raz Somech, Raz Somech, Hagith Yonath, Hagith Yonath, Hagith Yonath, Ori Toker   +19 more
doaj   +1 more source

Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease

Annals of Indian Academy of Neurology, 2014
Over 70 different Charcot-Marie-Tooth disease (CMT)–associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient.
Ashok Verma
doaj   +1 more source

A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17 [PDF]

, 2015
Closed breeding populations in the dog in conjunction with advances in gene mapping and sequencing techniques facilitate mapping of autosomal recessive diseases and identification of novel disease-causing variants, often using unorthodox experimental ...
A McKenna, András M. Komáromy, Cathryn Mellersh, D Gilliam, D Gould, D Hubmacher, Degui Zhi, FH Farias, G Lim, H Li, HG Parker, HM Kang, J Guo, J Guo, J Kuchtey, J Kuchtey, J Morales, JT Robinson, L Mosyak, Louise Pettitt, N Safra, N Siva, Oliver P. Forman, P Danecek, Peter Bedford, S Porter, S Purcell, SJ Ahonen   +27 more
core   +3 more sources

An heuristic filtering tool to identify phenotype-associated genetic variants applied to human intellectual disability and canine coat colors [PDF]

, 2015
Background: Identification of one or several disease causing variant(s) from the large collection of variants present in an individual is often achieved by the sequential use of heuristic filters.
Bosmans, Tim, Broeckx, Bart, Coopman, Frank, Deforce, Dieter, Dingemanse, Walter, Gielen, Ingrid, Saunders, Jimmy, Van Nieuwerburgh, Filip, Verhoeven, Geert   +8 more
core   +5 more sources

Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]

, 2017
Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc, David, Philippe, Desmyter, Laurence, Duerinckx, Sarah, Perazzolo, Camille, Pirson, Isabelle, Verhelst, Helene   +6 more
core   +2 more sources

Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project[S]

Journal of Lipid Research, 2014
HDL-associated paraoxonase-1 (PON1) is an enzyme whose activity is associated with cerebrovascular disease. Common PON1 genetic variants have not been consistently associated with cerebrovascular disease.
Daniel Seung Kim, David R. Crosslin, Paul L. Auer, Stephanie M. Suzuki, Judit Marsillach, Amber A. Burt, Adam S. Gordon, James F. Meschia, Mike A. Nalls, Bradford B. Worrall, W.T. Longstreth, Jr., Rebecca F. Gottesman, Clement E. Furlong, Ulrike Peters, Stephen S. Rich, Deborah A. Nickerson, Gail P. Jarvik   +16 more
doaj   +1 more source

Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

Frontiers in Genetics, 2022
A subgroup of congenital disorders of glycosylation (CDGs) includes inherited GPI-anchor deficiencies (IGDs) that affect the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, including the first reaction catalyzed by the X-linked PIGA. Here, we
Roberta Salinas-Marín, Yoshiko Murakami, Carlos Alberto González-Domínguez, Carlos Alberto González-Domínguez, Mario Ernesto Cruz-Muñoz, Héctor Manuel Mora-Montes, Eva Morava, Eva Morava, Eva Morava, Taroh Kinoshita, Susana Monroy-Santoyo, Iván Martínez-Duncker, Iván Martínez-Duncker   +12 more
doaj   +1 more source

Blastic plasmacytoid dendritic cell neoplasm: Genomics mark epigenetic dysregulation as a primary therapeutic target [PDF]

, 2019
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy for which there is still no effective B therapy.
Abate F., Agostinelli C., Amente S., Berti E., Bertolini F., Brundu F., Cerroni L., Dellino G. I., Etebari M., Facchetti F., Falini B., Fuligni F., Indio V., Laginestra M. A., Melle F., Motta G., Orecchioni S., Paulli M., Piccioni R., Pileri A., Pileri S. A., Pimpinelli N., Rabadan R., Rossi M., Sabattini E., Sapienza M. R., Tabanelli V., Talarico G., Tarantino G., Tripodo C., Truni M.   +30 more
core   +2 more sources

When moments matter: Finding answers with rapid exome sequencing

Molecular Genetics & Genomic Medicine, 2020
Background When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients.
Zöe Powis, Kelly D. Farwell Hagman, Kirsten Blanco, Margaret Au, John M. Graham, Kathryn Singh, Natalie Gallant, Linda M. Randolph, Meghan Towne, Jesse Hunter, Deepali N. Shinde, Erika Palmaer, Brian Schoenfeld, Sha Tang   +13 more
doaj   +1 more source

Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing

Archives of Medical Science, 2021
More than 25 million DNA variations have been discovered as novel including major alleles from the Arab population. Exome studies on the Saudi genome discovered > 3000 novel nucleotide variants associated with > 1200 rare genetic disorders ...
J. Francis Borgio
doaj   +1 more source