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PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
Siavrienė E, Maldžienė Ž, Mikštienė V, Petraitytė G, Rančelis T, Dapkūnas J, Burnytė B, Benušienė E, Sasnauskienė A, Grikinienė J, Griškevičiūtė E, Utkus A, Preikšaitienė E. Siavrienė E, et al. Medicina (Kaunas). 2022 Oct 26;58(11):1526. doi: 10.3390/medicina58111526. Medicina (Kaunas). 2022. PMID: 36363484 Free PMC article.
Background and Objectives: Pathogenic variants of PIGN are a known cause of multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). ...(Glu416GlyfsTer22)), and c.1674+1G>C (p.(Glu525AspfsTer68)) variants are pre …
Background and Objectives: Pathogenic variants of PIGN are a known cause of multiple congenital anomalies-hypotonia …
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.
Kolicheski AL, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Kinoshita T, Murakami Y, O'Brien DP. Kolicheski AL, et al. Neurogenetics. 2017 Jan;18(1):39-47. doi: 10.1007/s10048-016-0502-4. Epub 2016 Nov 28. Neurogenetics. 2017. PMID: 27891564 Free PMC article.
The two whole genome sequences from dogs with PxD had a rare homozygous PIGN:c.398C > T transition, which predicted the substitution of an isoleucine for a highly conserved threonine in the encoded enzyme. ...Flow cytometry of PIGN-knockout HEK239 cells expressing recom …
The two whole genome sequences from dogs with PxD had a rare homozygous PIGN:c.398C > T transition, which predicted the substituti …