Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Filters applied: . Clear all
Page 1
Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
Chin HL, Lin S, Dalmann J, Modi B, Alderman E, Salman A, Del Bel KL, Lehman A, Turvey SE, Boerkoel CF. Chin HL, et al. Eur J Med Genet. 2022 Mar;65(3):104427. doi: 10.1016/j.ejmg.2022.104427. Epub 2022 Jan 19. Eur J Med Genet. 2022. PMID: 35063693
Disease-associated variants in KIAA1109 associate with autosomal recessive Alkuraya-Kucinskas syndrome, which is typified by cerebral parenchymal underdevelopment, clubfeet, and arthrogryposis. ...These observations expand understanding of the genotype …
Disease-associated variants in KIAA1109 associate with autosomal recessive Alkuraya-Kucinskas syndrome, which is typifi …
A conserved megaprotein-based molecular bridge critical for lipid trafficking and cold resilience.
Wang C, Wang B, Pandey T, Long Y, Zhang J, Oh F, Sima J, Guo R, Liu Y, Zhang C, Mukherjee S, Bassik M, Lin W, Deng H, Vale G, McDonald JG, Shen K, Ma DK. Wang C, et al. Nat Commun. 2022 Nov 10;13(1):6805. doi: 10.1038/s41467-022-34450-y. Nat Commun. 2022. PMID: 36357390 Free PMC article.
LPD-3 bridges the endoplasmic reticulum (ER) and plasma membranes (PM), forming a structurally predicted hydrophobic tunnel for lipid trafficking. lpd-3 mutants exhibit abnormal phospholipid distribution, diminished FAT-7 abundance, organismic vulnerability to cold, and ar …
LPD-3 bridges the endoplasmic reticulum (ER) and plasma membranes (PM), forming a structurally predicted hydrophobic tunnel for lipid …