PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
about
A genetic basis for functional hypothalamic amenorrheaThe role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutationsModeling of human prokineticin receptors: interactions with novel small-molecule binders and potential off-target drugsA Novel Drug-Mouse Phenotypic Similarity Method Detects Molecular Determinants of Drug EffectsThe genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.Chaperoning G protein-coupled receptors: from cell biology to therapeuticsExpression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.Functional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in traffickingOligogenic basis of isolated gonadotropin-releasing hormone deficiency.The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadismGonadotropin-releasing hormone (GnRH) neuron migration: initiation, maintenance and cessation as critical steps to ensure normal reproductive functionDisease-causing mutation in PKR2 receptor reveals a critical role of positive charges in the second intracellular loop for G-protein coupling and receptor trafficking.G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficienciesThe puzzles of the prokineticin 2 pathway in human reproductionGenetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function.When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).An ancient founder mutation in PROKR2 impairs human reproduction.Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of ReproductionThe prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.Association between polymorphisms of prokineticin receptor (PKR1 rs4627609 and PKR2 rs6053283) and recurrent pregnancy lossVariations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.PROK2/PROKR2 Signaling and Kallmann Syndrome.Ontogenesis of gonadotropin-releasing hormone neurons: a model for hypothalamic neuroendocrine cell development.New understandings of the genetic basis of isolated idiopathic central hypogonadism.Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism.Prokineticin receptor identified by phage display is an entry receptor for Trypanosoma cruzi into mammalian cells.Intracellular Trafficking of Gonadotropin Receptors in Health and Disease.Sexually dimorphic distribution of Prokr2 neurons revealed by the Prokr2-Cre mouse model.Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.
P2860
Q24613193-BF2719D7-F78D-4B12-BACA-F7A29CBF9485Q28385113-BB068B4A-57E9-461D-B4B5-32898B9BD669Q28478103-673C89C8-96C3-474D-B420-E7A22B45D2A1Q28554371-B1FE11D5-8B12-4A7F-9386-D97795A604ABQ33830319-9FB1EADC-3C31-426B-929B-A306BDFE7178Q33927508-B45934DE-8686-46D4-BB6C-4A64531D457AQ33999699-6C21617A-914F-4AD8-B400-8A6299FE7C03Q34075966-43BA1127-EA80-490A-8980-81B018FDF830Q34093958-DC12A6E3-FEB0-4C61-BC69-C800EA3B12F4Q34262602-38846244-0A46-4F76-AFC5-2516E156278BQ34433460-D82B3C88-C875-42BE-BEB4-ACF47C3C61A9Q34947403-A075CD17-2409-4384-9059-E1F10C0FBC1FQ35256585-DA4B5ED4-7086-4E0E-8A09-1877EB6DDA15Q35458207-25C9D3C0-0E1D-4BC0-A14B-B5F60E4D62A0Q35551224-D7672C88-B11A-4D6A-98ED-A1E1617F69FCQ35869509-376843B7-D304-4C9D-93CA-24CBC58BD324Q36027774-559DF720-7920-4141-A053-BDDA71AD1080Q36113798-4A7BC66D-9F98-4A08-BA1E-83ADAD4B6E77Q36201503-C134BBB1-3211-4331-8B0A-EEBD7E08A426Q36231696-BFC8164B-36C9-4601-9DFF-0897B8D06FA9Q36283451-F1612A18-19B6-4EB8-AE86-C09561500B09Q36385294-F501509F-1BB4-4AC1-B243-6B9123C54C43Q36613472-87A19481-8176-427A-9C43-A01241A156DCQ36693582-44F873E8-B78B-487A-8AE4-57D0E5785ADCQ36730242-054DE652-2245-4C6B-BCE6-2F3464A5886CQ36760693-4872E853-E121-4840-8E57-0F8530523EA4Q37015568-BD35A7BD-69A6-4A7F-B77F-84DA41BD9D36Q37074564-8B67FA14-255B-4BF5-A46E-3ABF09C747A0Q37351126-2273561F-EEB2-401C-96EF-2095D0A9D818Q37681140-23F37402-6724-428C-B072-49EA09F83B9CQ38947035-86CD4C6D-E5AF-4A82-9C4A-52B62925D03EQ47612221-4B607083-CB52-4F0F-9551-29E435984472Q47729132-0DD3EC00-3506-4781-AF15-27A504A910B1Q51029666-E12FEABE-BE9E-481A-A9F8-34C340C9DC50Q52092392-42CC230C-804E-4008-B210-E75C832D9DE1Q52775689-BAC6CE6D-9321-4A77-9203-1EC66CA1283C
P2860
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
PROKR2 missense mutations asso ...... r receptor signalling activity
@ast
PROKR2 missense mutations asso ...... r receptor signalling activity
@en
PROKR2 missense mutations asso ...... r receptor signalling activity
@en-gb
PROKR2 missense mutations asso ...... r receptor signalling activity
@nl
type
label
PROKR2 missense mutations asso ...... r receptor signalling activity
@ast
PROKR2 missense mutations asso ...... r receptor signalling activity
@en
PROKR2 missense mutations asso ...... r receptor signalling activity
@en-gb
PROKR2 missense mutations asso ...... r receptor signalling activity
@nl
prefLabel
PROKR2 missense mutations asso ...... r receptor signalling activity
@ast
PROKR2 missense mutations asso ...... r receptor signalling activity
@en
PROKR2 missense mutations asso ...... r receptor signalling activity
@en-gb
PROKR2 missense mutations asso ...... r receptor signalling activity
@nl
P2093
P2860
P50
P3181
P356
P1476
PROKR2 missense mutations asso ...... r receptor signalling activity
@en
P2093
Carine Monnier
Catherine Dodé
Jean-Pierre Hardelin
Ludovic Fabre
Luis Teixeira
P2860
P3181
P356
10.1093/HMG/DDN318
P407
P577
2008-09-29T00:00:00Z