Results 231 to 240 of about 21,356 (260)

Recurrent COL3A1 mutation results in EDS IV or familial aneurysms

Human Mutation, 1997
EIV is a lethal genetic disease of collagen in which mutations in COL3A1 give rise to fragile skin, easy bruisability, and hollow organ ruptures (Kuivaniemi et al., 1991). Familial aneurysms is a vascular disease characterized by late-onset saccular aneurysms, probably multifactorial in origin, but rare cases may be due to COL3A1 mutations.
D W, Anderson, S, Thakker-Varia, C A, Stolle   +2 more
openaire   +2 more sources

A dimorphic Alu Sb-like insertion in COL3A1 is ethnic-specific

Journal of Molecular Evolution, 1996
Alu elements are a class of repetitive DNA sequences found throughout the human genome that are thought to be duplicated via an RNA intermediate in a process termed retroposition. Recently inserted Alu elements are closely related, suggesting that they are derived from a single source gene or closely related source genes.
D M, Milewicz, P H, Byers, J, Reveille, A L, Hughes, M, Duvic   +4 more
openaire   +2 more sources

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family [PDF]

Vascular and Endovascular Surgery, 2017
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified
Nicola Montano, Angela C Pesatori, Francesca Cortini   +2 more
exaly   +2 more sources

A Variant of COL3A1 (rs3134646) Is Associated With Risk of Developing Diverticulosis in White Men

Diseases of the Colon & Rectum, 2018
BACKGROUND:Colonic diverticulosis is one of the most common gastroenterological disorders. Although diverticulosis is typically benign, many individuals develop diverticulitis or other aspects of diverticular disease. Diverticulosis is thought to stem from a complex interaction of environmental, dietary, and genetic factors; however, the contributing ...
Reichert, Matthias, Kupcinskas, Juozas, Marcin Krawczyk, Jüngst, Christoph, Casper, Markus, Grünhage, Frank, Appenrodt, Beate, Zimmer, Vincent, Weber, Susanne, Tamelis, Algimantas, Lukosiene, Jaune, Pauziene, Neringa, Kiudelis, Gediminas, Jonaitis, Laimas, Schramm, Christoph, Goeser, Tobias, Schulz, Antje, Malinowski, Maciej, Glanemann, Matthias, Kupcinskas, Limas, Lammert, Frank   +20 more
openaire   +2 more sources

Postpartum Presentation of a Variant of Uncertain Significance in COL3A1: A Case Report

American Journal of Perinatology
Abstract Vascular Ehlers–Danlos syndrome (vEDS) is a rare inherited connective tissue disorder associated with significant maternal morbidity and mortality during pregnancy. Conflicting recommendations exist for management, particularly in patients with variant of uncertain significance (VUS).
Fatima Zohra Khamissi, Catherine Bachur, Anna Palatnik, Melissa Russo, Matthew A. Shanahan, Brock E. Polnaszek   +5 more
openaire   +2 more sources

Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link

Forensic Science, Medicine, and Pathology, 2010
We describe two previously unreported associations in four cases. The first two cases demonstrate an association between segmental mediolytic arteriopathy and vascular Ehlers-Danlos syndrome. The second two cases illustrate an association between vascular Ehlers-Danlos syndrome and traumatic subarachnoid hemorrhage.
Michael J, Pickup, Michael S, Pollanen
openaire   +2 more sources

Polymorphism rs1800255 from COL3A1 gene and the risk for pelvic organ prolapse

International Urogynecology Journal, 2019
Genetic variations of type III collagen may compromise the supportive structures of the female pelvic floor and consequently favor pelvic organ prolapse. The single nucleotide polymorphism G/A rs1800255 located in the coding region for type III collagen (COL3A1) was evaluated as a risk factor for pelvic organ prolapse.A single-center prospective cohort
Fernando Henrique Teixeira, César Eduardo Fernandes, Ricardo Peres do Souto, Emerson de Oliveira   +3 more
openaire   +2 more sources

Morphologically Malignant Nodular Fasciitis With COL3A1::USP6 Fusion and aTP53 Mutation

Annals of Plastic Surgery
Nodular fasciitis is a rapidly growing soft tissue tumor that typically arises in children and young adults. Histologically, it consists of short, sweeping, and intersecting fascicles of bland-appearing myofibroblasts. The majority of nodular fasciitis lesions harbor rearrangements involving the ubiquitin-specific protease 6 (
Mariko Suchi, Selcen S. Yuksel, André M. Oliveira, Nathan J. Schloemer, Kathleen M. Bone, Kant YK Lin   +5 more
openaire   +2 more sources

A cutaneous spindle cell neoplasm characterized by a COL3A1::PDGFRA fusion

Journal of Cutaneous Pathology
AbstractCutaneous spindle cell neoplasms can be challenging to diagnose using routine histopathological techniques alone, and the growing repertoire of molecular studies can assist in diagnosis. We describe a cutaneous spindle cell neoplasm characterized by a COL3A1::PDGFRA rearrangement predicted to lead to constitutive activation of the PDGFRA kinase
James Watkins, Edward Jackson, Patrick Tarpey, John A. Tadross, Jamie Trotman, Emily O'Dea   +5 more
openaire   +2 more sources

COL3A1 promotes gastric cancer progression by activating PI3K/AKT signaling

Cancer Gene Therapy
COL3A1 plays an oncogenic role in several types of cancer; however, the function of COL3A1 in gastric cancer (GC) remains unknown. The present study investigated the function and possible molecular mechanisms of COL3A1 in GC. The results showed that COL3A1 mRNA and protein were overexpressed in GC tissues and cells, and is associated with Immune ...
Xiaqiong Mao, Wei Li, Yue Guan, Xiaoyi Kuai, Jie Yuan   +4 more
openaire   +2 more sources