Results 211 to 220 of about 137,449 (345)

Identification of copy neutral loss of heterozygosity on chromosomes 1p, 1q, and 6p among nonsyndromic cleft lip and/or without cleft palate with hypodontia. [PDF]

BMC Oral Health, 2023
Ghazali N, Rahman NA, Kannan TP, Ahmad A, Sulong S.   +4 more
europepmc   +1 more source

Loss of Heterozygosity in Pediatric Acute Lymphoblastic Leukemia and Its Prognostic Impact: A Retrospective Study. [PDF]

Cancers (Basel)
Styka B, Ręka G, Ozygała A, Janiszewska M, Stelmach M, Skowera P, Urbańska Z, Lejman M.   +7 more
europepmc   +1 more source

Genome plasticity driven by aneuploidy and loss of heterozygosity in Trypanosoma cruzi. [PDF]

Microb Genom, 2022
Cruz-Saavedra L, Schwabl P, Vallejo GA, Carranza JC, Muñoz M, Patino LH, Paniz-Mondolfi A, Llewellyn MS, Ramírez JD.   +8 more
europepmc   +1 more source

Silencing the intestinal GUCY2C tumor suppressor axis requires APC loss of heterozygosity [PDF]

, 2020
Amanda M. Pattison, Joshua R. Barton, Ariana A. Entezari, Alicja Zalewski, Jeffrey A. Rappaport, Adam E. Snook, Scott A. Waldman   +6 more
openalex   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Targeted loss of heterozygosity in Candida albicans using CRISPR-Cas9 reveals the functional impact of allelic variation. [PDF]

Genetics
Després PC, Gervais NC, Fogal M, Rogers RKJ, Cuomo CA, Shapiro RS.   +5 more
europepmc   +1 more source

Loss of Heterozygosity Spectrum Depends on Ploidy Level in Natural Yeast Populations. [PDF]

Mol Biol Evol, 2022
Dutta A, Dutreux F, Schacherer J.
europepmc   +1 more source

Loss Of Heterozygosity (LOH) [PDF]

, 2019
openaire   +1 more source

Chromosome 10 Loss of Heterozygosity [PDF]

, 2020
openaire   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source