COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6113
Abstract: Variants of COL4A1/COL4A2 genes have been reported in fetal intracranial hemorrhage (ICH) cases but their prevalence and characteristics have not been established in a large series of fetuses. Fetal neonatal alloimmune thrombocytopenia is a major… read more here.
Keywords: gene variants; col4a1 col4a2; inherited platelet; col4a2 ... See more keywords
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
Sign Up to like & getrecommendations! Published in 2025 at "Clinical Genetics"
DOI: 10.1111/cge.70043
Abstract: Deleterious variants in COL4A2, encoding type IV collagen's alpha‐2 chain, cause heterogeneous cerebrovascular and developmental brain malformations. While many dominant variants are known, biallelic changes are rarely reported. We reported two severe cases: Case #1,… read more here.
Keywords: col4a2; brain malformations; brain; brain small ... See more keywords
Contiguous Gene Deletion Involving COL4A1 and COL4A2 in a Patient with Thin Basement Membrane Nephropathy: A Case Report.
Sign Up to like & getrecommendations! Published in 2025 at "Nephron"
DOI: 10.1159/000549595
Abstract: INTRODUCTION Type IV collagen trimers are major structural components of the kidney glomerulus and tubules. Several loss-of-function COL4A1 and COL4A2 variants have been reported to cause cerebral small vessel disease. However, there is little evidence… read more here.
Keywords: col4a2; thin basement; basement membrane; membrane nephropathy ... See more keywords
Novel COL4A2 mutation causing familial malformations of cortical development.
Sign Up to like & getrecommendations! Published in 2021 at "European review for medical and pharmacological sciences"
DOI: 10.26355/eurrev_202101_24658
Abstract: OBJECTIVE This article aimed to describe a novel COL4A2 mutation and the phenotypic features of two family members presenting with epilepsy and cortical development malformations. PATIENTS AND METHODS The first patient is a 65-year-old woman… read more here.
Keywords: novel col4a2; cortical development; col4a2; col4a2 mutation ... See more keywords
COL4A2 enhances thyroid cancer cell proliferation through the AKT pathway
Sign Up to like & getrecommendations! Published in 2024 at "Oncology Research"
DOI: 10.32604/or.2024.047382
Abstract: Objectives Thyroid cancer (THCA) is the most common malignant tumor in endocrine system and the incidence has been increasing worldwide. And the number of patients dying from THCA has also gradually risen because the incidence… read more here.
Keywords: col4a2; akt pathway; thyroid cancer; cell ... See more keywords
Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation
Sign Up to like & getrecommendations! Published in 2024 at "International Journal of Medical Sciences"
DOI: 10.7150/ijms.97164
Abstract: There are more than 70 million people worldwide living with epilepsy, with most experiencing the onset of epilepsy in childhood. Despite the availability of more than 20 anti-seizure medications, approximately 30% of epilepsy patients continue… read more here.
Keywords: col4a2; epileptic spasm; col4a2 mutations; epilepsy ... See more keywords