Results 131 to 140 of about 232,441 (272)

Divergence and introgression among the virilis group of Drosophila

open access: yesEvolution Letters, Volume 6, Issue 6, Page 537-551, December 2022., 2022
Abstract Speciation with gene flow is now widely regarded as common. However, the frequency of introgression between recently diverged species and the evolutionary consequences of gene flow are still poorly understood. The virilis group of Drosophila contains 12 species that are geographically widespread and show varying levels of prezygotic and ...
Leeban H. Yusuf   +3 more
wiley   +1 more source

Functional Characterization of a Genetic Variant in the 5′ UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic germline variants in the APC gene result in familial adenomatous polyposis (FAP) which can escalate into colon cancer. Standard clinical testing failed to identify pathogenic variants in a 4‐generation FAP family. We identified and assessed co‐segregation of a 5′ untranslated region (UTR) variant, NM_001127511.3 (APC) c.‐40G>A ...
Brendon Young   +9 more
wiley   +1 more source

Metastatic sporadic paraganglioma with EWSR1::CREM gene fusion: A unique molecular profile that expands the phenotypic diversity of the molecular landscape of the EWSR1::CREM gene fusion positive tumors

open access: yesGenes, Chromosomes and Cancer, Volume 62, Issue 2, Page 85-92, February 2023., 2023
Abstract Chromosomal translocations with gene fusions are uniquely rare events in paraganglioma, mostly involving UBTF::MAML3 gene fusion. Precedent literature suggests that tumors involving MAML3 gene fusion correlate with poor clinical outcomes. Herein, we report a case of metastatic sporadic paraganglioma harboring EWSR1::CREM gene fusion in a 36 ...
Sehrish Javaid   +4 more
wiley   +1 more source

Long terminal repeat-like elements flank a human immunoglobulin epsilon pseudogene that lacks introns. [PDF]

open access: bronze, 1982
Shintaroh Ueda   +4 more
openalex   +1 more source

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2‐Associated Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SATB2‐associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT‐rich sequence‐binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain.
Nao Ukita   +5 more
wiley   +1 more source

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