Results 61 to 70 of about 654 (133)

Characterization of runs of homozygosity islands in American mink using whole‐genome sequencing data

Journal of Animal Breeding and Genetics, Volume 141, Issue 5, Page 507-520, September 2024.
Abstract The genome‐wide analysis of runs of homozygosity (ROH) islands can be an effective strategy for identifying shared variants within a population and uncovering important genomic regions related to complex traits. The current study performed ROH analysis to characterize the genome‐wide patterns of homozygosity, identify ROH islands and annotated
Pourya Davoudi, Duy Ngoc Do, Bruce Rathgeber, Stefanie Colombo, Mehdi Sargolzaei, Graham Plastow, Zhiquan Wang, Younes Miar   +7 more
wiley   +1 more source

Specific Alleles of CLN7 / MFSD8 , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Investigative Opthalmology & Visual Science, 2017
Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this ...
Khan, KN, El-Asrag, ME, Ku, CA, Holder, GE, McKibbin, M, Arno, G, Poulter, JA, Carss, K, Bommireddy, T, Bagheri, S, Bakall, B, Scholl, HP, Raymond, FL, Toomes, C, Inglehearn, CF, Pennesi, ME, Moore, AT, Michaelides, M, Webster, AR, Ali, M   +19 more
openaire   +4 more sources

Proceedings 36th Symposium ESVN‐ECVN 12th‐14th September 2024

Journal of Veterinary Internal Medicine, Volume 38, Issue 6, Page 3461-3536, November/December 2024.
wiley   +1 more source

MFSD8 Gene [PDF]

, 2020
openaire   +1 more source

MFSD8 wt Allele [PDF]

, 2020
openaire   +1 more source

Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis

Neuronale Ceroid-Lipofuszinosen (NCL) repräsentieren eine heterogene Gruppe von lysosomalen Speicherkrankheiten, die zu einer fortschreitenden Neurodegeneration führen. Wir untersuchten zwei Schweizer Niederlaufhunde mit neurologischen Symptomen ab dem Alter von zwölf Monaten. Beide Hunde mussten einige Monate nach Ausbruch der Krankheit eingeschläfert
openaire   +2 more sources

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy [PDF]

, 2017
Purpose: Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in
Khan, KN, El-Asrag, ME, Ku, CA, Holder, GE, McKibbin, M, Arno, G, Poulter, JA, Carss, K, Bommireddy, T, Bagheri, S, Bakall, B, Scholl, HP, Raymond, FL, Toomes, C, Inglehearn, CF, Pennesi, ME, Moore, AT, Michaelides, M, Webster, AR, Ali, M, for NIHR BioResource-Rare Diseases and UK Inherited Retinal Dise   +20 more
openaire   +2 more sources

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8. [PDF]

Genes (Basel), 2023
Pasquetti D, Marangi G, Orteschi D, Carapelle M, L'Erario FF, Venditti R, Maietta S, Battaglia DI, Contaldo I, Veredice C, Zollino M.   +10 more
europepmc   +1 more source

Cellular and molecular characterisation of MFSD8 mutations associated with the variant late-infantile NCL CLN7

Batten disease (BD), also known as neuronal ceroid lipofuscinoses (NCLs), is a collective group of inherited neurodegenerative disorders. NCLs are the most prevalent cause of dementia in children, and they are distinguished by a common symptomatology that includes epileptic seizures, visual impairment, and a progressive decline in cognitive and ...
openaire   +2 more sources

A host-derived volatile primes context-dependent foraging behavior in parasitic nematodes via a lysosome-associated neural pathway. [PDF]

Proc Natl Acad Sci U S A
Wu SY, Zhao Y, Yang Y, Tang F, Li Y, Xu J, Deng H, Hou Y.   +7 more
europepmc   +1 more source