Results 101 to 110 of about 13,282 (244)
Temperature-Sensitive Nonsense Mutations in Essential Genes of Escherichia coli [PDF]
, 1973 David L. Beckman, Stephen Cooper
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Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti +11 more
wiley +1 more source
Evidence for Proteolytic Degradation of Histidinol Phosphate Phosphatase Specified by Nonsense Mutants of the hisB Gene of Salmonella typhimurium [PDF]
, 1973 L. L. Houston
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini +8 more
wiley +1 more source
Does implicit speech in same-different decisions extend to nonsense forms? [PDF]
, 1972 Stuart T. Klapp, Donna M. Bischoff
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt +4 more
wiley +1 more source
Justine Breton, Monty Python Sacré Graal
Miranda: Revue Pluridisciplinaire du Monde Anglophone, 2021 Isabelle Schmitt-Pitiot
doaj +1 more source
SUPPRESSION OF TRYPTOPHAN MUTANTS IN BACILLUS SUBTILIS BY APPARENT NONSENSE SUPPRESSORS [PDF]
, 1971 Stephen A. Sherwin, Bruce C. Carlton
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Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti +12 more
wiley +1 more source