Results 261 to 270 of about 91,338 (344)

Loss of heterozygosity and mRNA expression at deleted in colorectal cancer gene locus in gastric cancer

, 1997
Dongxu Wang, Dian-Chun Fang, Yuan‐Hui Luo, Wei‐Wen Liu   +3 more
openalex   +1 more source

Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies.

Blood, 2010
C. O’Keefe, M. McDevitt, J. Maciejewski   +2 more
semanticscholar   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing. [PDF]

Sci Rep
Xue H, Yu A, Zhang L, Chen L, Guo Q, Lin M, Lin N, Chen X, Xu L, Huang H.   +9 more
europepmc   +1 more source

Detection of loss of heterozygosity of the adenomatous polyposis coli gene in tongue squamous cell carcinomas.

, 1995
Hideki Tanzawa, Katsuhiro Uzawa, Hidetaka Yokoe, Tsuneo MIYA, Yoshinori Narukawa, Toshinori Mabashi, Fujio ATSUTA, Masaaki TAKAHARA, Kenichi Sato   +8 more
openalex   +2 more sources

“Contextual” Synthetic Lethality and/or Loss of Heterozygosity: Tumor Hypoxia and Modification of DNA Repair

Clinical Cancer Research, 2010
N. Chan, R. Bristow
semanticscholar   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Mutant p53 reactivation restricts the protumorigenic consequences of wild type p53 loss of heterozygosity in Li-Fraumeni syndrome patient-derived fibroblasts. [PDF]

Cell Death Differ
Agarwal H, Tal P, Goldfinger N, Chattopadhyay E, Malkin D, Rotter V, Attery A.   +6 more
europepmc   +1 more source