Results 141 to 150 of about 1,544,422 (378)
Cell Communication and SignalingTP53 mutation (TP53-mut) correlates with inferior survival in many cancers, whereas its prognostic role in diffuse large B-cell lymphoma (DLBCL) is still in controversy.
Kai-Xin Du +14 more
doaj +1 more source
Dominant missense mutations in ABCC9 cause Cantú syndrome
Nature Genetics, 2012 Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined.
Harakalova, M. +31 more
openaire +8 more sources
Genome‐Wide Association Analyses Reveal the Genetic Basis of EMS Mutagenesis Efficiency in Rice
Advanced Science, EarlyView.Based on large‐scale screening of 420 rice accessions, GWAS identified the Rc locus as a key regulator of EMS mutagenesis efficiency. Functional Rc alleles enhance both seed survival and genome‐wide mutation frequency by boosting antioxidant enzyme activities (CAT, SOD, POD) and reducing oxidative damage.
Peizhou Xu +9 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2018 A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 there were 15 people diagnosed with MPS IV.
Lina Johanna Moreno Giraldo +3 more
doaj +1 more source
Artificial Intelligence for Bone: Theory, Methods, and Applications
Advanced Intelligent Discovery, EarlyView.Advances in artificial intelligence (AI) offer the potential to improve bone research. The current review explores the contributions of AI to pathological study, biomarker discovery, drug design, and clinical diagnosis and prognosis of bone diseases. We envision that AI‐driven methodologies will enable identifying novel targets for drugs discovery. The
Dongfeng Yuan +3 more
wiley +1 more source
Compound Heterozygous TGM1 Mutations Including a Novel Missense Mutation L204Q in a Mild Form of Lamellar Ichthyosis [PDF]
, 2001 Masashi Akiyama +5 more
openalex +1 more source
Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.Quantitative phase maps of single cells recorded in flow cytometry modality feed a hierarchical architecture of machine learning models for the label‐free identification of subtypes of ovarian cancer. The employment of a priori clinical information improves the classification performance, thus emulating the clinical application of liquid biopsy during ...
Daniele Pirone +11 more
wiley +1 more source
Respiratory Research, 2009 Background Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary arterial hypertension (PAH). While previous studies demonstrated a difference in severity
Wheeler Lisa A +10 more
doaj +1 more source
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia
Human Mutation, 2012 Autosomal recessive ataxias are heterogeneous group of disorders characterized by cerebellar atrophy and peripheral sensorimotor neuropathy. Molecular characterization of this group of disorders identified a number of genes contributing to these ...
Nada Al Tassan +11 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source