지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 16 - 20 (5page)
이용수
초록· 키워드
오류제보하기
Collagen type IV alpha 1 (COL4A1) plays an important role in construction of the basement membranes of all human tissues, especially vessels. Mutations in COL4A1 lead to various multisystemic dysfunctions, including hereditary porencephaly, hemorrhagic stroke, hemiplegia, cerebral small vessel disease, and nephropathy. In this study, we describe a neonatal case featuring a novel de novo COL4A1 mutation, manifesting as fetal intraventricular hemorrhage and porencephaly. This patient is one of the youngest to have been diagnosed with the most severe phenotype. Our experience may assist clinicians in the diagnosis and management of this extremely rare genetic condition.
목차
등록된 정보가 없습니다.
참고문헌 (17)
참고문헌 신청
Gould DB / 2005 / Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly / Science 308:1167~1171
Decio A / 2015 / A novel mutation in COL4A1 gene : a possible cause of early postnatal cerebrovascular events / Am J Med Genet A 167A:810~815
Durrani-Kolarik S / 2017 / COL4A1 mutation in a neonate with intrauterine stroke and anterior segment dysgenesis / Pediatr Neurol 66:100~103
Meuwissen ME / 2015 / The expanding phenotype of COL4A1 and COL4A2mutations: clinical data on 13 newly identified families and a review of the literature / Genet Med 17:843~853
Yoneda Y / 2013 / Phenotypic spectrum of COL4A1 mutations : porencephaly to schizencephaly / Ann Neurol 73:48~57
Decio A / 2015 / A novel mutation in COL4A1 gene : a possible cause of early postnatal cerebrovascular events / Am J Med Genet A 167A:810~815
Durrani-Kolarik S / 2017 / COL4A1 mutation in a neonate with intrauterine stroke and anterior segment dysgenesis / Pediatr Neurol 66:100~103
Meuwissen ME / 2015 / The expanding phenotype of COL4A1 and COL4A2mutations: clinical data on 13 newly identified families and a review of the literature / Genet Med 17:843~853
Yoneda Y / 2013 / Phenotypic spectrum of COL4A1 mutations : porencephaly to schizencephaly / Ann Neurol 73:48~57
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Clinical and Experimental Pediatrics
2019 .01
-
Novel Biomarkers of Health and Degeneration in Human Intervertebral Discs: In-depth Proteomic Analysis of Collagen Framework of Fetal, Healthy, Scoliotic, Degenerate, and Herniated Discs
Asian Spine Journal
2023 .02
-
The Effect of Trigonella foenum-graceum L. (Fenugreek) Towards Collagen Type I Alpha 1 (COL1A1) and Collagen Type III Alpha 1 (COL3A1) on Postmenopausal Woman’s Fibroblast
Natural Product Sciences
2019 .09
-
Collagen 24A1, a Potential Prognostic Biomarker in Hepatocellular Carcinoma
해부·생물인류학
2024 .06
-
한국인에서의 COL2A1 유전자 다형성과 강직성 척추염의 연관성
대한척추외과학회지
2020 .01
-
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea
Journal of Clinical Neurology
2017 .01
-
Prognostic value of COL6A3 in pancreatic adenocarcinoma
Annals of Hepato-Biliary-Pancreatic Surgery
2020 .02
-
Alport syndrome: new advances in the last decade
Childhood Kidney Diseases
2022 .06
-
Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta
Annals of Pediatirc Endocrinology & Metabolism
2022 .03
-
Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy
Annals of Clinical Neurophysiology
2018 .01
-
Lateral Ventricular Meningioma Presenting with Intraventricular Hemorrhage
Brain Tumor Research and Treatment
2019 .01
-
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea
Annals of Laboratory Medicine
2016 .01
-
뇌실내출혈을 동반한 뇌내출혈로 인한 편측무시 증상을 호소하는 환자에게 자음건비탕, 침치료, 사지운동을 포함한 한의복합치료 증례 보고 1례
대한한방내과학회지
2023 .05
-
A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea
Annals of Pediatirc Endocrinology & Metabolism
2024 .04
-
Genetic Mutation Analysis Can Supplement Clinically Confirmed Hereditary Hemorrhagic Telangiectasia Populations
Clinical and Experimental Otorhinolaryngology
2019 .01
-
Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan
Cancer Research and Treatment
2019 .01
-
Long-term Tractography Evaluation of Corpus Callosum Impairment after Severe Traumatic Brain Injury in Patients with Isolated Intraventricular Hemorrhage on Admission CT: Two Illustrative Cases and a Literature Review
Korean Journal of Neurotrauma
2023 .06
-
A Neonate with a PIGA c.1234C>T Mutation as a Novel Cause of Neonatal Early Infantile Epileptic Encephalopathy
Perinatology
2016 .01
-
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
전남의대학술지
2019 .01
-
Effects of Recombinant Human Erythropoietin Administration in Premature Infants with Severe Intraventricular Hemorrhage: A Single-Center Experience
Neonatal medicine
2023 .05
이 논문의 저자 정보
최근 본 자료
댓글(0)
0