Results 211 to 220 of about 1,412,344 (374)

New histopathological and molecular findings in gynecological cancers

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This review covers significant developments in the pathological classification of gynecological tumors in recent years. Topics covered include The Cancer Genome Atlas (TCGA) Classification of endometrial carcinomas and how to incorporate this into routine reporting, the fact that most synchronous endometrial and ovarian endometrioid carcinomas
W. Glenn McCluggage
wiley   +1 more source

A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas. [PDF]

F S Rep, 2023
Ruan Y, Feng W, Yang C.
europepmc   +1 more source

A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. [PDF]

, 1995
Petr Jarolı́m, Hillard Rubin, V Brabec, J Palek   +3 more
openalex   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle. [PDF]

Mamm Genome, 2023
Iwanaga Y, Tsuji K, Nishimura A, Tateishi K, Kakiuchi M, Tsuji T.   +5 more
europepmc   +1 more source

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family [PDF]

, 1999
Shin‐ichi Usami, Satoko Abe, Hideichi Shinkawa, Karen Deffenbacher, Shrawan Kumar, William J. Kimberling   +5 more
openalex   +1 more source

Homozygosity for a variant in SLC10A2 and infancy onset severe fat‐soluble vitamin deficiency due to bile acid malabsorption

JPGN Reports, EarlyView.
Abstract We present a case of a young female patient with persistent and severe fat‐soluble vitamin deficiency since infancy. Despite extensive investigations during childhood, the underlying cause remained elusive. The patient was generally asymptomatic while receiving continuous vitamin subsidy.
Christine Rungoe, Stefan Stender, Nawar Dalila, Emil D. Bartels, Christian Jakobsen   +4 more
wiley   +1 more source

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction.

, 1990
Takashi Kadowaki, Hiroaki Kadowaki, Simeon I. Taylor   +2 more
openalex   +1 more source

Investigating the bHLH transcription factor TSARL1 as marker and regulator of saponin biosynthesis in Chenopodium quinoa

Journal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND Quinoa (Chenopodium quinoa) is valued for its nutritional benefits and resilience to abiotic stresses. However, its commercial use is limited by bitter‐tasting saponins on the seeds, necessitating resource‐intensive removal processes.
Marius Kollmar, Katharina B. Böndel, Lukas John, Stefan Arold, Karl Schmid, David Jarvis, Sandra M Schmöckel, Sophie L Otterbach   +7 more
wiley   +1 more source

Application of topical gentamicin ointment in the treatment of Nagashima-type palmoplantar keratosis in children with a nonsense mutation. [PDF]

Pediatr Investig, 2023
Wang S, Yang Z, Liu Y, Zhang H, Liu Z, Wang X, Li Y, Liu H, Yang Y, Ma L.   +9 more
europepmc   +1 more source