COL4A1 is dramatically upregulated collagen gene in HCC by screening the expression patterns of all 44 collagen genes in liver cancer from the TCGA-LIHC database. COL4A1 promotes the growth and metastasis of HCC cells by activating FAK-Src signaling.3 Aug 2020
What is the COL3A1 gene?
The COL3A1 gene provides instructions for making type III collagen. Collagens are a family of proteins that strengthen and support many tissues in the body. Type III collagen is found in the skin, lungs, intestinal walls, and the walls of blood vessels.
What chromosome is COL5A1 on?
These studies establish the chromosomal location of the COL5A1 gene, which encodes the pro alpha 1 (V) chain, within segment 9q34. 2----q34. 3. These findings add to the previously characterized dispersion of collagen genes in the human genome, as this is the first example of a collagen locus on chromosome 9.These studies establish the chromosomal location of the COL5A1 gene, which encodes the pro alpha 1 (V) chain, within segment 9q349q34Medical genetics. 9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability.https://en.wikipedia.org › wiki9q34 deletion syndrome - Wikipedia. 2----q34. 3. These findings add to the previously characterized dispersion of collagen genes in the human genome, as this is the first example of a collagen locus on chromosome 9.
What is Gould's syndrome?
Gould Syndrome is often characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy), and kidney abnormalities (renal pathology); however, many other aspects of the syndrome including abnormalities affecting the structure of
What is COL4A1 mutation?
COL4A1-related brain small-vessel disease is characterized by stroke and eye abnormalities. Most of the identified COL4A1 gene mutations that cause COL4A1-related brain small-vessel disease change one of the protein building blocks (amino acids) used to make the alpha1(IV) chain of type IV collagen.
Is microvascular brain disease hereditary?
Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified.Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarctslacunar infarctsIntroduction. Lacunar syndromes are clinical manifestations of lacunar infarctions. Lacunar infarctions are defined as small subcortical lesions with a size of less than 15 mm in diameter caused by occlusion of a penetrating artery from a large cerebral artery, most commonly from the Circle of Willis.https://www.ncbi.nlm.nih.gov › books › NBK534206Lacunar Syndromes - StatPearls - NCBI Bookshelf and white matter hyperintensities on MRI. Several monogenic hereditary diseaseshereditary diseasesDefinition. Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life.https://www.ncbi.nlm.nih.gov › medgenInborn genetic diseases (Concept Id: C0950123) - NCBI causing cerebral small vessel disease and stroke have been identified.
What does COL4A1 do?
The COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many tissues throughout the body. Specifically, this gene makes the alpha1(IV) chain of type IV collagen.
What is COL4A2 gene?
COL4A2 (Collagen Type IV Alpha 2 Chain) is a Protein Coding gene. Diseases associated with COL4A2 include Brain Small Vessel Disease 2 and Hemorrhage, Intracerebral. Among its related pathways are Integrin Pathway and Phospholipase-C Pathway.29 Dec 2021
How many people have Gould Syndrome?
Understanding what it has taken to get her to this point, though, is close to unimaginable. Zeeva is one of fewer than 150 people in the world with a rare disease called Gould Syndrome or COL4A1/A2.4 Nov 2019