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

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 1
1992 1
1995 1
2002 2
2007 1
2016 1
2020 1
2021 2
2024 0

Text availability

Article attribute

Article type

Publication date

PubMed (cited) for id: 611099

10 results

Results by year

Filters applied: . Clear all
Page 1
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Al-Fadhli FM, Afqi M, Sairafi MH, Almuntashri M, Alharby E, Alharbi G, Abdud Samad F, Hashmi JA, Zaytuni D, Bahashwan AA, Choi JH, Peake RWA, Beutler B, Almontashiri NAM. Al-Fadhli FM, et al. Clin Genet. 2021 May;99(5):694-703. doi: 10.1111/cge.13930. Epub 2021 Feb 17. Clin Genet. 2021. PMID: 33495992
A prominent role of PDIA6 in processing of misfolded proinsulin.
Gorasia DG, Dudek NL, Safavi-Hemami H, Perez RA, Schittenhelm RB, Saunders PM, Wee S, Mangum JE, Hubbard MJ, Purcell AW. Gorasia DG, et al. Biochim Biophys Acta. 2016 Jun;1864(6):715-723. doi: 10.1016/j.bbapap.2016.03.002. Epub 2016 Mar 3. Biochim Biophys Acta. 2016. PMID: 26947243