Results 91 to 100 of about 880,277 (345)
LINC00323 variant is associated with increased risk of essential tremor
Annals of Clinical and Translational Neurology, EarlyView.Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan +11 more
wiley +1 more source
Specificity and promiscuity among naturally processed peptides bound to HLA-DR alleles
Journal of Experimental Medicine, 1993 Naturally processed peptides were acid extracted from immunoaffinity- purified HLA-DR2, DR3, DR4, DR7, and DR8. Using the complementary techniques of mass spectrometry and Edman microsequencing, > 200 unique peptide masses were identified from each ...
R. Chicz +5 more
semanticscholar +1 more source
dnaA alleles are recessive [PDF]
Journal of Bacteriology, 1980 Dominance tests of several dnaA alleles from Escherichia coli, including two previously reported to be dominant, show that all of the mutant alleles examined are recessive to dnaA+.
openaire +3 more sources
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Nature Genetics, 2011 Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also contribute modifier alleles to clinically distinct disorders.
E. Davis +46 more
semanticscholar +1 more source
VARIATION IN THE HOODED PATTERN OF RATS, AND A NEW ALLELE OF HOODED [PDF]
, 1951 W. E. Castle
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KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini +24 more
wiley +1 more source
PLoS Genetics, 2013 Large-scale population sequencing studies provide a complete picture of human genetic variation within the studied populations. A key challenge is to identify, among the myriad alleles, those variants that have an effect on molecular function, phenotypes,
Adam Kiezun +11 more
semanticscholar +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
THE FAILURE OF A t-ALLELE (t3) TO SUPPRESS CROSSING OVER IN THE MOUSE [PDF]
, 1953 L. C. Dunn, Salome Gluecksohn‐Waelsch
openalex +1 more source