Somatic sex determination (Homo sapiens)

Revision as of 22:57, 17 February 2020 by JenG (Talk | contribs)

Description

No description

View approved pathways at the new wikipathways.org.

Pathway Ontology : bone disease pathway

Disease : Adams-Oliver syndrome bone disease cleidocranial dysplasia Pallister-Hall syndrome polydactyly brachydactyly brachydactyly type A1 campomelic dysplasia acrocapitofemoral dysplasia syndactyly type 1 Robinow syndrome autosomal dominant Robinow syndrome 1 osteogenesis imperfecta spondylocostal dysostosis 1 split hand-foot malformation 6

Cell Type : osteoblast osteocyte chondrocyte

Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC; ''A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
Bashamboo A, McElreavey K; ''Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.''; Sex Dev, 2016 PubMed Europe PMC Scholia

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Revision	Action	Time	User	Comment
136147	view	00:06, 20 December 2024	Khanspers	Ontology Term : 'Leydig cell' added !
136146	view	18:06, 19 December 2024	Khanspers	added xref for CTNNB1
136144	view	18:01, 19 December 2024	Khanspers	overhaul for clarity, added Wikidata nodes, add NR5A1 interaction and reference
116554	view	12:51, 7 May 2021	Eweitz	Modified title
110053	view	16:06, 15 April 2020	Fehrhart	Ontology Term : 'sex differentiation disease' added !
110052	view	16:05, 15 April 2020	Fehrhart	Ontology Term : 'signaling pathway' added !
110051	view	16:04, 15 April 2020	Fehrhart	added reference
109792	view	05:38, 1 April 2020	JenG	Modified description
109269	view	12:53, 3 March 2020	Fehrhart	update
109119	view	22:57, 17 February 2020	JenG	New pathway

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Name	Type	Database reference
AMH	GeneProduct	ENSG00000104899 (Ensembl)
DHH	GeneProduct	ENSG00000139549 (Ensembl)
DMRT1	GeneProduct	ENSG00000137090 (Ensembl)
FGF9	GeneProduct	ENSG00000102678 (Ensembl)
FOXL2	GeneProduct	ENSG00000183770 (Ensembl)
GATA4	GeneProduct	ENSG00000136574 (Ensembl)
NR5A1	GeneProduct	ENSG00000136931 (Ensembl)
PTGDS	GeneProduct	ENSG00000107317 (Ensembl)
RSPO1	GeneProduct	ENSG00000169218 (Ensembl)
SOX8	GeneProduct	ENSG00000005513 (Ensembl)
SOX9	GeneProduct	ENSG00000125398 (Ensembl)
SRY	GeneProduct	ENSG00000184895 (Ensembl)
WNT4	GeneProduct	ENSG00000162552 (Ensembl)
WT1	GeneProduct	ENSG00000184937 (Ensembl)