Results 121 to 130 of about 72,863 (253)

Evolution of loss of heterozygosity patterns in hybrid genomes of Candida yeast pathogens. [PDF]

BMC Biol, 2023
Mixão V, Nunez-Rodriguez JC, Del Olmo V, Ksiezopolska E, Saus E, Boekhout T, Gacser A, Gabaldón T.   +7 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Estimating the distribution of fitness effects of loss of heterozygosity (LOH) events using an engineered library of Saccharomyces cerevisiae. [PDF]

PLoS Genet
Ke YH, Orozco-Quime M, Bauman J, Carvalho T, Landry GA, Ge S, Kumar A, James TY.   +7 more
europepmc   +1 more source

Loss of heterozygosity in colorectal cancer

African Journal of Biotechnology, 2012
Colorectal cancer (CRC) is one of the most common malignancies in the world. The development and progression of CRC is a multistep process, which involves many dietary and environmental factors. A great number of oncogenes, tumour suppressor genes and DNA repair genes contribute to molecular and biological features of CRC, providing us much essential ...
Ozaslan, M, Aytekin, T
openaire   +1 more source

Gain and Loss of Heterozygosity in the Genome of the Asexual Nematode Halicephalobus mephisto. [PDF]

J Mol Evol
Amini A, Bracht JR.
europepmc   +1 more source

Mutations in Homologous Recombination Genes and Loss of Heterozygosity Status in Advanced-Stage Breast Carcinoma. [PDF]

Cancers (Basel), 2023
Bartow BB, Siegal GP, Yalniz C, Elkhanany AM, Huo L, Ding Q, Sahin AA, Guo H, Magi-Galluzzi C, Harada S, Huang X.   +10 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Pattern-based p53 and p16 Immunohistochemistry as a Potential Alternative to Loss of Heterozygosity Testing for Progression Risk of Oral Epithelial Dysplasia. [PDF]

Cancer Prev Res (Phila)
Liu KYP, Ko YCK, Poh CF.
europepmc   +1 more source

Polyploidy as an Adaptation against Loss of Heterozygosity in Cancer. [PDF]

Int J Mol Sci, 2022
Archetti M.
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source