Life and health

COHORFES study

CohorFES (NCT06965972) is a Spanish multicenter prospective cohort led by Parc de Salut Mar and CIBERFES following 1,500 adults over 65 from six hospital outpatient clinics to identify frailty phenotypic clusters, progression trajectories, and outcomes, using FTS5, Fried phenotype, eFI, and a metabolomics biobank.

Cohort study

Cohort study: an observational epidemiology design following an exposed and unexposed group over time to measure incidence and risk; exemplified by the Framingham Heart Study (1948, 5,209 participants), with prospective and retrospective forms.

Coiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A (Freud-1/TAPE/Aki-1), UniProt Q6P1N0, is a 951-aa human scaffold on 19p13.12 with four DM14 domains and a C2 domain; DM14 binds CHMP4B and mutations cause intellectual disability, autism, and heterotaxy.

Coiled-coil SMC6 And NSE5 INteracting (CANIN) domain

CANIN (Coiled-coil SMC6 And NSE5 INteracting) domain, pfam14816, a conserved C-terminal domain of NSE6/SLF2/FAM178A in the SMC5/6 complex that binds NSE5 and the SMC6 coiled-coil arm, targeting the complex to DNA repair sites.

Coilin

Coilin, also called p80-coilin and encoded by the gene COIL, is an 80-kilodalton protein whose depletion eliminates Cajal bodies, where snRNPs mature about 10 times faster.

Coir

Coir (Malayalam kayar) is fiber from coconut husks, a by-product of copra production, used for ropes, mats, geotextiles, composites, and coco peat growing medium; produced mainly in India and Sri Lanka.

Coital alignment technique

Coital alignment technique (CAT), or "grinding the corn", is a modified missionary sex position created by Edward Eichel that uses a riding-high posture and slow rocking to stimulate the clitoris during intercourse; trials show mixed but partly positive results for female orgasm.

Coitus interruptus

Coitus interruptus, also called withdrawal or the pull-out method, is a form of contraception in which the man withdraws before ejaculating, with about 78% typical-use effectiveness.

Coitus reservatus

Coitus reservatus, also called karezza (from Italian carezza), is prolonged intercourse with delayed or suppressed ejaculation. Used historically as contraception and in Tantric and Daoist semen-retention practices; promoted in 19th-century America as male continence.

COL11A1

COL11A1 (collagen type XI alpha 1 chain, STL2, DFNA37) is a gene on chromosome 1p21.1 encoding the alpha 1 chain of type XI collagen; mutations cause type II Stickler syndrome, Marshall syndrome, and fibrochondrogenesis, and the gene is a cancer biomarker.

COL11A2

COL11A2 (collagen type XI alpha 2 chain, STL3) is a chromosome 6p21.32 gene encoding the pro-alpha2(XI) chain of type XI collagen; mutations cause Stickler syndrome type 3, OSMED, Weissenbacher-Zweymüller syndrome, fibrochondrogenesis type 2, and DFNA13/DFNB53 deafness.

COL1A1

COL1A1 (collagen type I alpha 1 chain) is a chromosome 17 gene encoding the pro-α1(I) chain of type I collagen; pathogenic variants cause osteogenesis imperfecta types I-IV, Caffey disease, some Ehlers-Danlos types, and dermatofibrosarcoma protuberans.

COL1A2

COL1A2 (collagen type I alpha 2 chain), a gene on chromosome 7q21.3 encoding the pro-α2(I) chain of type I collagen; pathogenic variants cause osteogenesis imperfecta types I-IV and arthrochalasia or cardiac-valvular Ehlers-Danlos syndrome.

COL2A1

COL2A1, the collagen type II alpha 1 chain gene at 12q13.1-q13.2, encodes the alpha-1(II) chain of type II collagen; pathogenic variants cause type II collagenopathies from lethal achondrogenesis to Stickler syndrome and early osteoarthritis.

COL3A1

COL3A1 (collagen type III alpha 1 chain) is a gene on chromosome 2q32.2 encoding the pro-α1(III) chain of type III collagen in skin, vessels, and hollow organs; pathogenic variants cause vascular Ehlers-Danlos syndrome (vEDS, EDS type IV).

COL4A1

COL4A1 (collagen type IV alpha 1 chain), a gene on chromosome 13q34 encoding the alpha1(IV) basement membrane collagen chain; pathogenic glycine variants cause autosomal dominant porencephaly, brain small-vessel disease, and HANAC syndrome.

COL4A2

COL4A2 (collagen type IV alpha 2 chain), also called BSVD2 or POREN2, is a gene at 13q34 encoding the alpha 2 chain of type IV collagen; pathogenic variants cause autosomal dominant porencephaly, intracerebral hemorrhage, and cerebral small-vessel disease.

COL4A4

COL4A4 (collagen type IV alpha 4 chain) is a chromosome 2 gene encoding the alpha4(IV) collagen chain; heterozygous variants cause thin basement membrane nephropathy or autosomal dominant Alport syndrome, biallelic variants autosomal recessive Alport syndrome.

COL5A1

COL5A1 (collagen type V alpha 1 chain, MIM 120215) is a human gene on 9q34.3 encoding the pro-α1(V) chain of type V collagen; heterozygous mutations cause classical Ehlers-Danlos syndrome types I and II.

COL6A1

COL6A1 (collagen type VI alpha 1 chain), Gene ID 1291, on chromosome 21q22.3, encodes the alpha1(VI) chain of beaded-filament type VI collagen; pathogenic variants cause Bethlem myopathy 1A and Ullrich congenital muscular dystrophy 1A.

COL7A1

COL7A1 (collagen type VII alpha 1 chain), chromosome 3p21 gene encoding type VII collagen of anchoring fibrils; mutations cause all forms of dystrophic epidermolysis bullosa, and it is the target of approved gene therapies B-VEC and Zevaskyn.

Colanic acid biosynthesis, glycosyl transferase, WcaE

WcaE (gene b2055, UniProt P71239) is the colanic acid biosynthesis fucosyltransferase of E. coli and Enterobacteriaceae, one of five wca-cluster glycosyltransferases; it adds the second fucose to the acetylated lipid-linked repeat unit in the Wzy-dependent pathway.

Colanic acid biosynthesis, glycosyl transferase, WcaI

WcaI (UniProt P32057, gene wcaI, E. coli K-12) is a 407-amino-acid glycosyltransferase that adds fucose to the bactoprenyl-linked glucose during colanic acid repeat-unit assembly; mutants are serum-sensitive.

Colanic acid biosynthesis, glycosyl transferase, WcaL

WcaL (gene wcaL, b2044) is the E. coli colanic acid biosynthesis glycosyltransferase, 406 aa, that catalyzes the final glycosylation of the lipid-linked hexasaccharide repeat before WcaK pyruvylation.

Colanic acid biosynthesis, pyruvyl transferase, WcaK

WcaK (b2045, ECK2039, NP_416549) is the pyruvyl transferase of the E. coli K-12 wca colanic acid cluster; with WcaL it catalyzes the final two steps, pyruvylating the lipid-linked hexasaccharide repeat unit.

Colchicine

Colchicine, a tubulin-binding alkaloid from Colchicum autumnale, treats acute gout flares, prevents flares during urate-lowering therapy, and treats familial Mediterranean fever; low doses work with fewer adverse events than high doses.

Colchicine poisoning

Colchicine poisoning: toxic state from overdose of the gout drug colchicine or autumn crocus ingestion; three-phase gastroenteritis-to-multiorgan-failure course, high mortality, no antidote, supportive care.

Colchicum autumnale

Colchicum autumnale (autumn crocus, meadow saffron) is a toxic European Colchicaceae geophyte flowering leafless in autumn; source of colchicine, used for gout and familial Mediterranean fever, and often mistaken for wild garlic or saffron.