Endothelin receptor type B, (ET-B) is a protein that in humans is encoded by the EDNRB gene. Endothelin receptor type B is a G protein-coupled receptor which activates...

in humans. A mutation in the middle of the endothelin receptor type B (EDNRB) gene causes lethal white syndrome when homozygous. Carriers, which are...

copies of EDNRB. It leads to death from intestinal pseudo-obstruction due to Hirschsprung's disease. A mutation in a single copy of EDNRB, however, as...

The syndrome is caused by mutation in the endothelin B receptor gene (EDNRB). In the beginning, medical officials defined ABCD syndrome by the four...

neural crest cells eventually form bundles of nerve cells called ganglions. EDNRB codes for proteins that connect these nerve cells to the digestive tract...

pigmentation around the body. Studies have also shown that hearing loss due to EDNRB mutation such as the ones that cause type 4A, have a 53.3% prevalence in...

RET, GDNF, GFRα, EDN3, and EDNRB. RET, a receptor tyrosine kinase (RTK), forms a complex with GDNF and GFRα. EDN3 and EDNRB are then implicated in the...

Australia. Genes that, when mutated, can cause leucism include c-kit, mitf and EDNRB. The terms leucistic and leucism are derived from the stem leuc- + -ism...

Li, Y.M.; Sun, J.H. (2015). "Cloning and association analysis of KIT and EDNRB polymorphisms with dominant white coat color in the Chinese raccoon dog...

in lymphocytic leukemia 1 DZIP1: DAZ interacting zinc finger protein 1 EDNRB: endothelin receptor type B ELF1: encoding protein E74-like factor 1 (ets...

000 Aarskog–Scott syndrome FGD1 X-linked recessive 1:25,000 ABCD syndrome EDNRB recessive 1:18,000-20,000 Absence deformity of leg-cataract syndrome Aceruloplasminemia...

demonstrated in a peripheral neuropathy model in rats. Mutations in the EDNRB gene are associated with ABCD syndrome and some forms of Waardenburg syndrome...

Hirschprung disease. LWS occurs when a foal is homozygous for the Ile118Lys EDNRB mutation, which is considered by many researchers to be "usually responsible"...

peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived...

HPSE2 Astro_60 unknown unknown brain None None unknown None TNC, LINC00499, EDNRB, APOE Astro_61 unknown unknown brain None None unknown None AQP1, GFAP,...

various genetic causes, and those that have been studied usually map to the EDNRB and KIT genes. However, much about the genetics behind various all-white...

The greying process is progressive and unique to the horse. n/n: No grey. EDNRB (Frame Overo/Lethal white syndrome) OLW or Fr n OLW/n: Frame Overo pattern...

HGNC:3177 P20800 4717 EDN3 HGNC:3178 P14138 4718 EDNRA HGNC:3179 P25101 4719 EDNRB HGNC:3180 P24530 4720 EDRF1 HGNC:24640 Q3B7T1 4721 EEA1 HGNC:3185 Q15075...

(GPCRs), the endothelin A receptor (EDNRA) and the endothelin B receptor (EDNRB). As ET-2 has a very similar homology to ET-1, differing only in two amino...

homozygote embryos. Another specific mutation on the endothelin receptor type B (EDNRB) gene is associated with the frame overo pattern produces Lethal white syndrome...

InterPro: IPR000499 Endothelin receptor type A (EDNRA, ET1R) Endothelin receptor type B (EDNRB, ETBR) GPR37 (GPR37, ETBR-LP2) InterPro: IPR003909 Neuromedin U receptor...

is homozygous for frame overo, which is a mutation on a different gene, EDNRB. Some of the genes in the W allelic series are embryonic lethal when homozygous...

610460; TPMT Aarskog–Scott syndrome; 305400; FGD1 ABCD syndrome; 600501; EDNRB Abetalipoproteinemia; 200100; MTP ACAD9 deficiency; 611126; ACAD9 Acampomelic...

ACP5 BCL2 BEST1 BIRC7 CDK2 CLCN7 DCT EDNRB GPNMB GPR143 MC1R MLANA OSTM1 RAB27A SILV SLC45A2 TBX2 TRPM1 TYR TYRP1...

Chuang A, Mydlarz WK, Kaur J, Huang P, et al. (November 2010). "KIF1A and EDNRB are differentially methylated in primary HNSCC and salivary rinses". International...