Abstract Search

8.2. Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion

A Berthon , N Settas , A Delaney , A Giannakou , A Demidowich , FR Faucz , SB Seminara , ME Chen , CA Stratakis

Hum Mol Genet. 2020 Dec 18;29(20): 34433450.https://pubmed.ncbi.nlm.nih.gov/33089319/The authors performed an experimental study in Kiss1 knock-out mice, followed by an observational study of patients with adrenal tumors. The findings indicate that KISS1/KISS1R signaling may be involved in obesity, metabolic disorders and even gonadal steroid hormone perturbations.<p class="abstex...

0 shares

ey0018.1-9 | Genetics | ESPEYB18

1.9. Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development

EJ Lodge , P Xekouki , TS Silva , C Kochi , CA Longui , FR Faucz , A Santambrogio , JL Mills , N Pankratz , J Lane , D Sosnowska , T Hodgson , AL Patist , P Francis-West , F Helmbacher , C Stratakis , CL Andoniadou

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...

0 shares

ey0019.1-11 | Clinical Papers | ESPEYB19

1.11. Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

M Franke , AF Daly , L Palmeira , A Tirosh , A Stigliano , E Trifan , FR Faucz , D Abboud , P Petrossians , JJ Tena , E Vitali , AG Lania , JL Gomez-Skarmeta , A Beckers , CA Stratakis , G Trivellin

Am J Hum Genet. 2022;109(4):553-570. PMID: 35202564. doi: 10.1016/j.ajhg.2022.02.002.Brief Summary: The authors present elegant data showing that X-LAG is a TADopathy of the endocrine system and that the rewiring of GPR101 -enhancer interactions most likely causes the upregulation of GPR101 expression in X-LAG-related pituitary tumors.The X-LAG micr...

0 shares

ESPE Yearbook of Paediatric Endocrinology

8.2. Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion

1.9. Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development

1.11. Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

BiosciAbstracts