Search results
Results from the WOW.Com Content Network
ADAM17 is an 824-amino acid polypeptide.[5] [6]ADAM17 has multidomain structure that includes a pro-domain, a metallo-protease domain, a disintegrin domain, a cysteine-rich domain, an EGF-like domain, a transmembrane domain, and a cytoplasmic tail.
The ADAM11 gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. [13] ADAM12: ADAM12, a metalloprotease that binds insulin growth factor binding protein-3 (IGFBP-3), appears to be an effective early Down syndrome ...
Hyper-IgD syndrome (Mevalonate kinase deficiency) CIAS1-related diseases: Muckle–Wells syndrome; Familial cold autoinflammatory syndrome, types 1, 2, 3, and 4; Neonatal onset multisystem inflammatory disease; NLRP1 deficiency; PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, acne) ADAM17 deficiency; Blau syndrome
Before gene testing was available, the type and location of tumors determined which type of MEN2 a person had. Gene testing now allows a diagnosis before tumors or symptoms develop. [citation needed] Comparison of main types of multiple endocrine neoplasia. A table in the multiple endocrine neoplasia article compares the various MEN syndromes ...
This abnormality is a paraneoplastic syndrome (i.e. caused by hyperplasia or tumors). About 35% of the cases are caused by a single aldosterone-secreting adenoma, a condition known as Conn's syndrome. [7] [8] Many patients experience fatigue, potassium deficiency and high blood pressure which may cause poor vision, confusion or headaches.
But elimination of any gene essential for base excision repair kills the embryo—it is too lethal to display symptoms (much less symptoms of cancer or "accelerated aging"). [38] Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and Werner syndrome show the most features ...
Hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary predisposition to colon cancer.. HNPCC includes (and was once synonymous with) [1] Lynch syndrome, an autosomal dominant genetic condition that is associated with a high risk of colon cancer, endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. [2]
Under the name constitutional mismatch repair-deficiency (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2. [2] Monoallelic mutations of these genes are observed in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer, while biallelic mutations are observed in CMMR-D. [3] People expressing the HNPCC (which itself is considered autosomal dominant) trait are ...