Study on tumour suppressor gene TP53 mutation and prognosis in patients with triple-negative breast cancer [PDF]
Waike lilun yu shijian, 2022 Objective To investigate tumour suppressor gene TP53 mutation, clinicopathological features and prognosis in the patients with triple-negative breast cancer (TNBC).
YANG Cuiyan, WANG Haoyu, CHEN Xiaosong, SHEN Kunwei
doaj +1 more source
In Silico Approach for Prediction of the Structural and Functional Impacts of 184(T>C) Missense Mutation Identified in BRCA1 Gene in a Syrian Breast Cancer Patient [PDF]
Middle East Journal of Cancer, 2020 Background: The classification of genetic variations depending on their clinical impacts is highly relevant for clinical decision-making. Therefore, predicting the effects of missense mutations using in silico tools has become a frequently employed ...
Husam Khalil
doaj +1 more source
Frontiers in Genetics, 2022 Conventionally, protein features affected by missense mutation was attributed to destroy an important domain with amino acid alternation, and it was difficult to clearly specify the pathogenicity of a novel missense mutation.
Kai Yan +9 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 Objective To summarize the clinical and genetic mutation characteristics of a family of early ‑ onset familial Alzheimer's disease (EOFAD) type 3 with spastic paraplegia as the first symptom.
LI Hai‑jiang, WANG Chao‑dong
doaj +1 more source
Elastin genetic point mutation and the risk of pelvic organ prolapse
Clinical and Experimental Obstetrics & Gynecology, 2020 Aim: A missense mutation in the elastin gene (g28197A > G) is associated with an increased risk for inguinal hernias. Due to the shared epidemiological and pathophysiological features between pelvic organ prolapse (POP) and inguinal hernias, the authors ...
N. Haya +5 more
doaj +1 more source
Identification of a DAGLB Mutation in a Non-Chinese Patient with Parkinson's Disease [PDF]
Movement Disorders, 2023, 38 (9), pp.1756-1757, 2023 Liu et al. recently reported that biallelic mutations in DAGLB are responsible for autosomal recessive early-onset Parkinson's disease. They identified six patients carrying DAGLB mutations, all of Chinese origin and presenting with typical Parkinson disease.
arxiv +1 more source
Biomedicines, 2022 Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3)
Antonino Musumeci +11 more
doaj +1 more source
Identification of a Tumor Specific, Active-Site Mutation in Casein Kinase 1α by Chemical Proteomics. [PDF]
PLoS ONE, 2016 We describe the identification of a novel, tumor-specific missense mutation in the active site of casein kinase 1α (CSNK1A1) using activity-based proteomics.
Eric S Okerberg +10 more
doaj +1 more source
A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro. [PDF]
Ital J PediatrBackground Pyruvate dehydrogenase (PDH) deficiency is an uncommon condition responsible for primary refractory lactic acidosis, and PDH E1β (PDHB) subunit gene mutation rarely causes of PDH deficiency.
Li Y, Cheng L, Li X, Liu J, Yi L, Bo T.
europepmc +2 more sources
Functional analysis reveals driver cooperativity and novel mechanisms in endometrial carcinogenesis
EMBO Molecular Medicine, 2023 High‐risk endometrial cancer has poor prognosis and is increasing in incidence. However, understanding of the molecular mechanisms which drive this disease is limited.
Matthew Brown +11 more
doaj +1 more source