Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Genetics of Female Pelvic Organ Prolapse: Up to Date.
Li Y et al.
Biomolecules, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Identification of novel prognostic and predictive biomarkers in salivary duct carcinoma via comprehensive molecular profiling.
Kohsaka S et al.
Npj Precision Oncology, 2022
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
Case report: Characterization of a rare pathogenic variant associated with loss of COL3A1 expression in vascular Ehlers Danlos syndrome.
Manhas J et al.
Frontiers in Cardiovascular Medicine, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Ehlers-Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database.
Shido K et al.
The Journal of Dermatology, 2021
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Collagen type 3A1 and 1A1 polymorphisms in women with pelvic organ prolapse and urinary incontinence assessed with Sanger sequencing method.
Kasyan G et al.
Central European Journal of Urology, 2021
High-throughput screening reveals novel mutations in spinal muscular atrophy patients.
Zhang R et al.
Italian Journal of Pediatrics, 2020
Genetic polymorphisms in collagen-related genes are associated with pelvic organ prolapse.
Li L et al.
Menopause (new York, N.y.), 2020
Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys-Dietz Syndrome.
Luo X et al.
Frontiers in Genetics, 2020
Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.
Hong EP et al.
Journal of Clinical Medicine, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
Tandy-Connor S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Genetic Risk Factors for Intracranial Aneurysm in the Kazakh Population.
Zholdybayeva EV et al.
Journal of Molecular Neuroscience : Mn, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles.
Parkin JD et al.
Plos One, 2017
Role of Collagen Gene Polymorphisms in the Structure of Early Gestation Loss.
Alegina EV et al.
Bulletin of Experimental Biology and Medicine, 2016
Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.
Lips EH et al.
Breast Cancer Research : Bcr, 2015
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective.
Wooderchak-Donahue WL et al.
Bmc Medical Genomics, 2012
A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms.
Chen J et al.
Human Genetics, 2012
Smoking confers a MTHFR 677C>T genotype-dependent risk for systemic atherosclerosis: results from a large number of elderly autopsy cases that died in a community-based general geriatric hospital.
Sawabe M et al.
Journal of Atherosclerosis and Thrombosis, 2009
Identification of a polymorphism of UCP3 associated with recurrent in-stent restenosis of coronary arteries.
Oguri M et al.
International Journal of Molecular Medicine, 2007
Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis.
Yamaguchi S et al.
International Journal of Molecular Medicine, 2006
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
Schwarze U et al.
American Journal of Human Genetics, 2001