Results 151 to 160 of about 204,351 (287)

Blubber Thickening Driven by UCP1 Inactivation: Insights from a Cetacean‐Like Transgenic Mouse Model

Integrative Zoology, EarlyView.
UCP1 inactivation of cetaceans in mice drives BAT whitening and iWAT hyperplasia, promoting fat accumulation for aquatic adaptation. Abstract Cetaceans possess thick blubber, a specialized adipose tissue essential for thermal insulation, a streamlined body form, energy storage, and buoyancy. However, the mechanisms that underpin this adaptation are not
Qian Zhang, Yuehua Wang, Hang Zhang, Guiping Xu, Shixia Xu, Guang Yang   +5 more
wiley   +1 more source

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, EarlyView.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source

Genotype–Phenotype Correlations of Li–Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort

Cancer Science, EarlyView.
This study investigates genotype–phenotype correlations in Japanese families with germline TP53 pathogenic variants, collected through a nationwide prospective cancer surveillance study (JCCG LFS‐20). Among 41 families analyzed, 36 met criteria for Li–Fraumeni syndrome (LFS), and 5 were classified as attenuated LFS.
Fumito Yamazaki, Yoshiko Nakano, Masashi Sanada, Hiroki Kurahashi, Shunsuke Miyai, Arisa Ueki, Yuko Watanabe, Daisuke Hasegawa, Shuhei Karakawa, Toshifumi Ozaki, Akira Hirasawa, Akiko M. Saito, Eisuke Inoue, Motohiro Kato, Hiroyoshi Hattori   +14 more
wiley   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

Clinical Genetics, EarlyView.
Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer, Matt Edwards, Thomas Macdougall, Anne Baxter, Himanshu Goel   +4 more
wiley   +1 more source

Downregulation of eRF1 by RNA interference increases mis-acylated tRNA suppression efficiency in human cells [PDF]

, 2017
The site-specific incorporation of non-natural amino acids into proteins by nonsense suppression has been widely used to investigate protein structure and function. Usually this technique exhibits low incorporation efficiencies of non-natural amino acids
Ilegems, Erwin, Pick, Horst M., Vogel, Horst   +2 more
core  

mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs)

Nucleic Acids Research
AbstractNonsense mutations account for >10% of human genetic disorders, including cystic fibrosis, Alagille syndrome, and Duchenne muscular dystrophy. A nonsense mutation results in the expression of a truncated protein, and therapeutic strategies aim to restore full-length protein expression.
Denis Susorov, Dimas Echeverria, Anastasia Khvorova, Andrei A Korostelev   +3 more
openaire   +2 more sources

Identification of BCL2L11 as a Candidate Gene for Hereditary Predisposition to Non‐Medullary Thyroid Cancer Using Familial Whole‐Exome‐Sequencing

Clinical Genetics, EarlyView.
Whole‐exome sequencing of five families with non‐medullary thyroid cancer revealed three candidate genes. Functional analyses confirmed BCL2L11 as a strong candidate gene for hereditary predisposition to non‐medullary thyroid cancer. ABSTRACT Familial non‐medullary thyroid cancer, defined as two or more affected first‐degree relatives, accounts for 3 ...
Duygu Abbasoglu, Mathis Lepage, Nicolas Sonnier, Sandrine Viala, Nancy Uhrhammer, Flora Ponelle‐Chachuat, Anne Cayre, Maud Privat, Mathias Cavaillé, Yannick Bidet   +9 more
wiley   +1 more source

Nonsense Codons

Cold Spring Harbor Symposia on Quantitative Biology, 1966
A O, Stretton, S, Kaplan, S, Brenner
openaire   +2 more sources

A Novel Homozygous Nonsense Pathogenic Variant of the CPAMD8 Gene Associated With Congenital Microcoria

Clinical Genetics, EarlyView.
A novel CPAMD8 nonsense mutation c.2679C>G (p.Tyr893*) was identified in a patient with congenital microcoria, leading to reduced mRNA expression and predicted protein truncation. ABSTRACT Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR.
Jing‐Fan Gao, Xin Jin, Jing‐Rao Wang, Shu Wang, Hong Zhang   +4 more
wiley   +1 more source