Results 141 to 150 of about 43,378 (245)

SIRT Family: Biological Functions and Therapeutic Targets

open access: yesMedComm, Volume 7, Issue 8, August 2026.
SIRT1–SIRT7 networks from transgenic mice to human‑relevant therapeutic targets. SIRT1–SIRT7 form an isoform‑, organ‑, and disease‑specific regulatory network. Transgenic Sirt1–7 mouse models define central regulatory SIRTs (SIRT1, SIRT3, SIRT6), context‑dependent modifiers (SIRT2, SIRT4, SIRT5, SIRT7), and their key mechanisms and target organs. These
Jia‐Yi Wang   +9 more
wiley   +1 more source

Interchange heterozygotes versus homozygotes [PDF]

open access: yesHeredity, 1976
R J Bailey, H Rees, L M Jones
openaire   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu   +5 more
wiley   +1 more source

Distribution and frequency of Vkorc1 polymorphisms in house mice and Norway rats in the northeastern United States

open access: yesPest Management Science, Volume 82, Issue 8, Page 7700-7710, August 2026.
This study assesses the distribution and frequency of Vkorc1 polymorphisms in house mice and Norway rats in northeastern USA. House mice showed higher frequency of Vkorc1 mutations than Norway rats. The A32V and Y139F mutations are first reported in mice, and the L128V is newly reported in Norway rats.
Jin‐Jia Yu   +6 more
wiley   +1 more source

Gene polymorphisms and occurrence of type 2 diabetes in a Gabonese population. [PDF]

open access: yesInt J Biochem Mol Biol
Mbang Bengone AS   +5 more
europepmc   +1 more source

Treatment of Familial Hypercholesterolemia Homozygote

open access: yesThe Journal of Japan Atherosclerosis Society, 1982
Rikurou HAYASHI   +9 more
openaire   +2 more sources

Meta‐Analysis: Redefining Liver Disease Risk in Heterozygous Alpha‐1 Antitrypsin Deficiency

open access: yesAlimentary Pharmacology &Therapeutics, Volume 64, Issue 4, Page 430-440, August 2026.
SERPINA1 MZ/SZ genotypes is a common but under‐recognised liver risk state. Despite modest shifts in liver function tests, it is associated with approximately doubled odds of fibrosis, cirrhosis, and liver transplantation, supporting its inclusion in chronic liver disease risk assessment.
Adam M. Syanda   +8 more
wiley   +1 more source

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