Biochemical Analysis of a Missense Mutation in Aceruloplasminemia [PDF]
Journal of Biological Chemistry, 2002 Aceruloplasminemia is an inherited neurodegenerative disease characterized by parenchymal iron accumulation secondary to loss-of-function mutations in the ceruloplasmin gene. To elucidate the molecular pathogenesis of aceruloplasminemia, the biosynthesis of a missense mutant ceruloplasmin (P177R) occurring in an affected patient was examined.
Nathan E. Hellman +3 more
openaire +3 more sources
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To study the clinical features and gene mutations of early-onset epileptic encephalopathy (EOEE) and to explore the application in pathogenic diagnosis of EOEE by next generation sequencing. Methods The clinical data of 68 cases diagnosed with
Xiao-jun LIU +8 more
doaj +1 more source
A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]
, 2017 Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella +10 more
core +2 more sources
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. [PDF]
PLoS Genetics, 2008 The functional consequences of missense variants in disease genes are difficult to predict. We assessed if gene expression profiles could distinguish between BRCA1 or BRCA2 pathogenic truncating and missense mutation carriers and familial breast cancer ...
Nic Waddell +12 more
doaj +1 more source
Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds. [PDF]
, 2019 Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first
Burns, Erin N +4 more
core +1 more source
A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort [PDF]
, 2016 Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases.
Autore, Camillo +11 more
core +1 more source
Molecular Medicine, 2023 Background Bladder cancer (BCa) is the most common malignant tumor of the urinary system, with transitional cell carcinoma (TCC) being the predominant type.
Mayao Luo +5 more
doaj +1 more source
Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity [PDF]
, 2003 We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.
Anke Hinney +40 more
core +1 more source
Phenylketonuria missense mutations in the Mediterranean
Genomics, 1991 Two missense mutations have been identified in the phenylalanine hydroxylase (PAH) genes of an Italian phenylketonuria (PKU) patient. Both mutations occurred in exon 7 of the PAH gene, resulting in the substitution of Trp for Arg at amino acid 252 (R252W) and of Leu for Pro (P281L) at amino acid 281 of the protein.
R. Longhi +8 more
openaire +3 more sources
PI3K: Missense mutation motivates malignancy [PDF]
Cancer Biology & Therapy, 2004 Commentary to: The PIK3CA Gene is Mutated with High Frequency in Human Breast Cancers Kurtis E. Bachman, Pedram Argani, Yardena Samuels, Natalie Silliman, Janine Ptak, Steve Szabo, Hiroyuki Konishi, Bedri Karakas, Brian G. Blair, Clarence Lin, Brock A. Peters, Victor E.
Valerie S. Hawthorne, Dihua Yu
openaire +3 more sources