Endothelin receptor type B (redirect from EDNRB)
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...
15 KB (1,733 words) - 19:12, 27 March 2024
in humans. A mutation in the middle of the endothelin receptor type B (EDNRB) gene causes lethal white syndrome when homozygous. Carriers, which are...
36 KB (4,180 words) - 02:24, 28 January 2024
The syndrome is caused by mutation in the endothelin B receptor gene (EDNRB). In the beginning, medical officials defined ABCD syndrome by the four...
13 KB (1,725 words) - 14:35, 26 May 2024
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...
49 KB (5,809 words) - 00:22, 14 April 2024
neural crest cells eventually form bundles of nerve cells called ganglions. EDNRB codes for proteins that connect these nerve cells to the digestive tract...
36 KB (3,871 words) - 12:47, 4 April 2024
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...
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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...
41 KB (4,584 words) - 16:09, 24 February 2024
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...
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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...
54 KB (5,963 words) - 13:31, 18 April 2024
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...
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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,...
171 KB (1,209 words) - 00:56, 5 June 2024
in lymphocytic leukemia 1 DZIP1: DAZ interacting zinc finger protein 1 EDNRB: endothelin receptor type B ELF1: encoding protein E74-like factor 1 (ets...
25 KB (1,569 words) - 22:28, 28 March 2024
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...
8 KB (1,004 words) - 23:15, 15 December 2023
demonstrated in a peripheral neuropathy model in rats. Mutations in the EDNRB gene are associated with ABCD syndrome and some forms of Waardenburg syndrome...
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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...
51 KB (4,824 words) - 16:47, 11 April 2024
Hirschprung disease. LWS occurs when a foal is homozygous for the Ile118Lys EDNRB mutation, which is considered by many researchers to be "usually responsible"...
15 KB (1,806 words) - 21:57, 31 May 2024
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...
29 KB (3,590 words) - 06:58, 7 June 2024
homozygote embryos. Another specific mutation on the endothelin receptor type B (EDNRB) gene is associated with the frame overo pattern produces Lethal white syndrome...
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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...
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(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...
20 KB (2,419 words) - 08:00, 21 August 2023
InterPro: IPR000499 Endothelin receptor type A (EDNRA, ET1R) Endothelin receptor type B (EDNRB, ETBR) GPR37 (GPR37, ETBR-LP2) InterPro: IPR003909 Neuromedin U receptor...
25 KB (2,172 words) - 01:01, 29 November 2023
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...
41 KB (5,050 words) - 22:41, 31 March 2024
610460; TPMT Aarskog–Scott syndrome; 305400; FGD1 ABCD syndrome; 600501; EDNRB Abetalipoproteinemia; 200100; MTP ACAD9 deficiency; 611126; ACAD9 Acampomelic...
234 KB (18,877 words) - 15:43, 9 May 2024
ACP5 BCL2 BEST1 BIRC7 CDK2 CLCN7 DCT EDNRB GPNMB GPR143 MC1R MLANA OSTM1 RAB27A SILV SLC45A2 TBX2 TRPM1 TYR TYRP1...
43 KB (4,822 words) - 22:18, 10 June 2024
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...
44 KB (5,563 words) - 14:40, 16 May 2024