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1 change: 1 addition & 0 deletions _data/WP4814-bibliography.tsv
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ID Database Citation
27378692 Pubmed "A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, et al. Hum Mol Genet. 2016 Aug 15;25(16):3446–53. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/27378692"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/27378692"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/27378692"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
27915330 Pubmed "Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development. Bashamboo A, McElreavey K. Sex Dev. 2016;10(5–6):313–25. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/27915330"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/27915330"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/27915330"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
2 changes: 2 additions & 0 deletions _data/WP4814-datanodes.tsv
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Label Type Identifier Comment Ensembl NCBI gene HGNC UniProt Wikidata ChEBI InChI PubChem ChemSpider HMDB KEGG LipidMaps
ZFPM2 GeneProduct ncbigene:23414 "" ensembl:ENSG00000169946 ncbigene:23414 hgnc.symbol:ZFPM2 uniprot:Q8WW38;uniprot:E7ET52;uniprot:E5RJX0
DHH GeneProduct ensembl:ENSG00000139549 "" ensembl:ENSG00000139549 ncbigene:50846 hgnc.symbol:DHH uniprot:O43323
CTNNB1 GeneProduct ncbigene:1499 "" ensembl:ENSG00000168036 ncbigene:1499 hgnc.symbol:CTNNB1 uniprot:A0A2R8Y6G0;uniprot:A0A2R8Y804;uniprot:A0A2R8Y815;uniprot:A0A2R8Y5A3;uniprot:C9IZ65;uniprot:A0A2R8Y5C3;uniprot:P35222;uniprot:A0A2R8Y7Z0;uniprot:A0A2R8YG06;uniprot:A0A2R8Y5Z1;uniprot:A0A2R8Y750;uniprot:A0A2R8YCH5;uniprot:A0A024R2Q3;uniprot:A0A2R8Y543;uniprot:B4DGU4
FOXL2 GeneProduct ensembl:ENSG00000183770 "" ensembl:ENSG00000183770 ncbigene:668 hgnc.symbol:FOXL2 uniprot:P58012;uniprot:Q53ZD3
SOX9 GeneProduct ensembl:ENSG00000125398 "" ensembl:ENSG00000125398 ncbigene:6662 hgnc.symbol:SOX9 uniprot:P48436
AMH GeneProduct ensembl:ENSG00000104899 "" ensembl:ENSG00000104899 ncbigene:268 hgnc.symbol:AMH uniprot:P03971
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2 changes: 2 additions & 0 deletions _data/WP5504-bibliography.tsv
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ID Database Citation
9783642403361 ISBN "Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Springer; 2014. 0 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ <a href=""https://openlibrary.org/search?isbn=9783642403361"" target=""_blank"" class=""external"" rel=""nofollow"">OpenLibrary</a> <a href=""https://www.worldcat.org/search?qt=wikipathways&q=isbn%3A9783642403361"" target=""_blank"" class=""external"" rel=""nofollow"">Worldcat</a>"
37884807 Pubmed "Mitochondrial matrix RTN4IP1/OPA10 is an oxidoreductase for coenzyme Q synthesis. Park I, Kim KE, Kim J, Kim AK, Bae S, Jung M, et al. Nat Chem Biol. 2024 Feb;20(2):221–33. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/37884807"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/37884807"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/37884807"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
38199007 Pubmed "Identification of TMEM126A as OXA1L-interacting protein reveals cotranslational quality control in mitochondria. Poerschke S, Oeljeklaus S, Cruz-Zaragoza LD, Schenzielorz A, Dahal D, Hillen HS, et al. Mol Cell. 2024 Jan 18;84(2):345-358.e5. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/38199007"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/38199007"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/38199007"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
38891822 Pubmed "Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes. Pontifex CS, Zaman M, Fanganiello RD, Shutt TE, Pfeffer G. Int J Mol Sci. 2024 May 22;25(11):5633. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/38891822"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/38891822"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/38891822"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
39075050 Pubmed "Deubiquitinase USP9x regulates the proline biosynthesis pathway in non-small cell lung cancer. Becirovic T, Zhang B, Lindskog C, Norberg E, Vakifahmetoglu-Norberg H, Kaminskyy VO, et al. Cell Death Discov. 2024 Jul 29;10(1):342. <a href=""http://www.ncbi.nlm.nih.gov/pubmed/39075050"" target=""_blank"" class=""external"" rel=""nofollow"">PubMed</a> <a href=""https://europepmc.org/abstract/MED/39075050"" target=""_blank"" class=""external"" rel=""nofollow"">Europe PMC</a> <a href=""https://scholia.toolforge.org/pubmed/39075050"" target=""_blank"" class=""external"" rel=""nofollow"">Scholia</a>"
13 changes: 13 additions & 0 deletions _data/WP5504-datanodes.tsv
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@@ -1,8 +1,10 @@
Label Type Identifier Comment Ensembl NCBI gene HGNC UniProt Wikidata ChEBI InChI PubChem ChemSpider HMDB KEGG LipidMaps
arginine Metabolite chebi:29016 "" wikidata:Q27104032 chebi:29016 inchikey:ODKSFYDXXFIFQN-UHFFFAOYSA-N pubchem.compound:59119146;pubchem.compound:232;pubchem.compound:5246487 chemspider:227 hmdb:HMDB0251511 kegg.compound:C02385
NADPH Metabolite chebi:16474 "cofactor to PYCR3" wikidata:Q26841327 chebi:16474 inchikey:ACFIXJIJDZMPPO-NNYOXOHSSA-N pubchem.compound:5884 chemspider:5673 hmdb:HMDB0000221 kegg.compound:C00005
pyrroline-5-carboxylate Metabolite chebi:15893 "AKA P5C" wikidata:Q27098284 chebi:15893 inchikey:DWAKNKKXGALPNW-UHFFFAOYSA-M pubchem.compound:11966213 chemspider:10140206 kegg.compound:C04322
Proline Metabolite chebi:26271 "" wikidata:Q484583 chebi:26271 inchikey:ONIBWKKTOPOVIA-UHFFFAOYSA-N pubchem.compound:25246272;pubchem.compound:614 chemspider:594 hmdb:HMDB0251528 kegg.compound:C16435
biotin Metabolite chebi:15956 "" wikidata:Q181354 chebi:15956 inchikey:YBJHBAHKTGYVGT-ZKWXMUAHSA-N pubchem.compound:171548 chemspider:149962 hmdb:HMDB0000030 kegg.compound:C00120
ornithine Metabolite chebi:18257 "" wikidata:Q27102952 chebi:18257 inchikey:AHLPHDHHMVZTML-UHFFFAOYSA-N pubchem.compound:134895646;pubchem.compound:389 chemspider:380 kegg.compound:C01602 lipidmaps:LMFA01100057
glutamate Metabolite chebi:14321 "" wikidata:Q27108980 chebi:14321 inchikey:WHUUTDBJXJRKMK-UHFFFAOYSA-M pubchem.compound:4452358;pubchem.compound:4179667;pubchem.compound:4525487 chemspider:3390755
α-Ketoglutarate Metabolite chebi:30915 "aka 2-oxoglutaric acid" wikidata:Q306140 chebi:30915 inchikey:KPGXRSRHYNQIFN-UHFFFAOYSA-N pubchem.compound:156274072;pubchem.compound:51 chemspider:50 hmdb:HMDB0000208 kegg.compound:C00026
AFG3L2 GeneProduct ensembl:ENSG00000141385 "" ensembl:ENSG00000141385 ncbigene:10939 hgnc.symbol:AFG3L2 uniprot:K7EP56;uniprot:Q9Y4W6
Expand All @@ -16,6 +18,7 @@ GFER GeneProduct hgnc.symbol:GFER "" ensembl:ENSG00000127554 ncbigene:2671 hgnc.
HSPA9 GeneProduct ensembl:ENSG00000113013 "" ensembl:ENSG00000113013 ncbigene:3313 hgnc.symbol:HSPA9 uniprot:A0A7I2V3F7;uniprot:A0A7I2V3D9;uniprot:H0Y8K0;uniprot:A0A384P5G6;uniprot:A0A7I2V4A9;uniprot:D6RCD7;uniprot:A0A3B3ITI4;uniprot:A0A7I2YQQ5;uniprot:A0A7I2V2S7;uniprot:A0A7I2V2G2;uniprot:A0A7I2V2K6;uniprot:P38646;uniprot:H0Y8S0;uniprot:A0A7I2YQB2
HSPD1 GeneProduct ensembl:ENSG00000144381 "" ensembl:ENSG00000144381 ncbigene:3329 hgnc.symbol:HSPD1 uniprot:C9JL19;uniprot:E7ESH4;uniprot:A0A7I2YQ71;uniprot:C9JL25;uniprot:F8WBB1;uniprot:C9J0S9;uniprot:A0A7I2V2X6;uniprot:P10809;uniprot:E7EXB4;uniprot:A0A024R3X4;uniprot:A0A7I2V369;uniprot:A0A7I2V599;uniprot:A0A7I2V5M1;uniprot:A0A7I2YQK6;uniprot:C9JCQ4;uniprot:A0A7I2V5K3
HTRA2 GeneProduct ensembl:ENSG00000115317 "" ensembl:ENSG00000115317 ncbigene:27429 hgnc.symbol:HTRA2 uniprot:A0A384MDW9;uniprot:A0A0C4DG44;uniprot:O43464
LONP1 GeneProduct uniprot:P36776 "" ensembl:ENSG00000196365 ncbigene:9361 hgnc.symbol:LONP1 uniprot:K7ERS1;uniprot:K7EJE8;uniprot:K7EKE6;uniprot:K7ERR6;uniprot:K7ER27;uniprot:P36776;uniprot:K7EQF8;uniprot:K7ER56
MIPEP GeneProduct ensembl:ENSG00000027001 "" ensembl:ENSG00000027001 ncbigene:4285 hgnc.symbol:MIPEP uniprot:Q99797
PAM16 GeneProduct ensembl:ENSG00000217930 "" ensembl:ENSG00000217930 ncbigene:51025 hgnc.symbol:PAM16 uniprot:Q9Y3D7;uniprot:A0A0B4J298;uniprot:I3L1U7;uniprot:I3L3G8;uniprot:I3L0X9;uniprot:I3L1K9;uniprot:I3L3T0
PITRM1 GeneProduct ensembl:ENSG00000107959 "" ensembl:ENSG00000107959 ncbigene:10531 hgnc.symbol:PITRM1 uniprot:A0A7I2V5C6;uniprot:A0A7I2V3B6;uniprot:A0A7I2YQX5;uniprot:A0A7I2YQT2;uniprot:A0A7I2V3X0;uniprot:A0A7I2V2T0;uniprot:H0Y7L7;uniprot:H0Y4F7;uniprot:A0A7I2V397;uniprot:B4DEU0;uniprot:A0A7I2V4X7;uniprot:A0A0A0MRX9;uniprot:A0A7I2V5R2;uniprot:B1APQ0;uniprot:A0A7I2V449;uniprot:A0A7I2V4N3;uniprot:B1APQ1;uniprot:A0A7I2V5K2;uniprot:A0A7I2V3L7;uniprot:A0A7I2V5H2;uniprot:Q5JRX3
Expand Down Expand Up @@ -44,9 +47,12 @@ TXNRD2 GeneProduct ensembl:ENSG00000184470 "" ensembl:ENSG00000184470 ncbigene:1
MICU1 GeneProduct ensembl:ENSG00000107745 "" ensembl:ENSG00000107745 ncbigene:10367 hgnc.symbol:MICU1 uniprot:S4R3V1;uniprot:S4R3W3;uniprot:A0A0U1RRK1;uniprot:A0A286YF11;uniprot:S4R3D7;uniprot:E9PQV6;uniprot:Q9BPX6
ATAD3A GeneProduct ensembl:ENSG00000197785 "" ensembl:ENSG00000197785 ncbigene:55210 hgnc.symbol:ATAD3A uniprot:H0Y2W2;uniprot:Q5SV16;uniprot:Q9NVI7
MICOS13 GeneProduct ensembl:ENSG00000174917 "" ensembl:ENSG00000174917 ncbigene:125988 hgnc.symbol:MICOS13 uniprot:A0A140TA84;uniprot:A0A140TA86;uniprot:Q5XKP0;uniprot:K7EIR2
UBXN1 Protein uniprot:Q04323 "" ensembl:ENSG00000162191 ncbigene:51035 hgnc.symbol:UBXN1 uniprot:A0A024R539;uniprot:E9PRQ7;uniprot:E9PS08;uniprot:A0A087WTZ5;uniprot:Q04323;uniprot:A0A024R598;uniprot:E9PJ81
OXA1L Protein uniprot:Q15070 "" ensembl:ENSG00000155463 ncbigene:5018 hgnc.symbol:OXA1L uniprot:E7EVY0;uniprot:H7BZE6;uniprot:J3KNA0;uniprot:Q15070;uniprot:C9JC63;uniprot:A0A087X0L7
YME1L1 Protein uniprot:Q96TA2 "Not in Figure, but added in Table 46.35" ensembl:ENSG00000136758 ncbigene:10730 hgnc.symbol:YME1L1 uniprot:R4GNA5;uniprot:Q6PJ89;uniprot:Q5T8D2;uniprot:Q5T8D1;uniprot:Q96TA2
PYCR3 Protein uniprot:Q53H96 "Active in Cytosol" ensembl:ENSG00000104524 ncbigene:65263 hgnc.symbol:PYCR3 uniprot:A0A087WTU2;uniprot:F8WEI0;uniprot:A0A0A0MQS1;uniprot:B5MD87;uniprot:Q53H96
OPA3? Protein uniprot:Q9H6K4 "" ensembl:ENSG00000125741 ncbigene:80207 hgnc.symbol:OPA3 uniprot:B4DK77;uniprot:Q9H6K4
UFD1 Protein uniprot:Q92890 "" ensembl:ENSG00000070010 ncbigene:7353 hgnc.symbol:UFD1 uniprot:C9J6N9;uniprot:Q92890;uniprot:C9J7C8;uniprot:Q541A5;uniprot:C9IZG3;uniprot:C9JNP9
COQ3 Protein uniprot:Q9NZJ6 "" ensembl:ENSG00000132423 ncbigene:51805 hgnc.symbol:COQ3 uniprot:F6WGP0;uniprot:Q9NZJ6
MSTO1? Protein uniprot:Q9BUK6 "" ensembl:ENSG00000125459 ncbigene:55154 hgnc.symbol:MSTO1 uniprot:V9GYF2;uniprot:Q9BUK6;uniprot:A0A3B3IUD2
SACS? Protein uniprot:Q9NZJ4 "" ensembl:ENSG00000151835 ncbigene:26278 hgnc.symbol:SACS uniprot:A0A804HHS6;uniprot:A0A804HL98;uniprot:A0A804HK57;uniprot:H0Y6M8;uniprot:A0A804HKY6;uniprot:A0A804HIQ1;uniprot:A0A804HJS2;uniprot:B2REB0;uniprot:A0A804HLL1;uniprot:Q9NZJ4;uniprot:A0A804HK18;uniprot:A0A804HKB3;uniprot:A0A804HIG5;uniprot:A0A804HLK7;uniprot:A0A804HIU0
Expand All @@ -59,3 +65,10 @@ PYCR1 Protein uniprot:P32322 "Active in Cytosol" ensembl:ENSG00000183010 ncbigen
PYCR2 Protein uniprot:Q96C36 "Active in Cytosol" ensembl:ENSG00000143811 ncbigene:29920 hgnc.symbol:PYCR2 uniprot:A0A087WX69;uniprot:A0A0S2Z5U6;uniprot:A0A087WTV6;uniprot:A0A087WZF0;uniprot:Q96C36
OPA3 Protein uniprot:Q9H6K4 "" ensembl:ENSG00000125741 ncbigene:80207 hgnc.symbol:OPA3 uniprot:B4DK77;uniprot:Q9H6K4
MSTO1 Protein uniprot:Q9BUK6 "" ensembl:ENSG00000125459 ncbigene:55154 hgnc.symbol:MSTO1 uniprot:V9GYF2;uniprot:Q9BUK6;uniprot:A0A3B3IUD2
LONP1 Protein uniprot:P36776 "" ensembl:ENSG00000196365 ncbigene:9361 hgnc.symbol:LONP1 uniprot:K7ERS1;uniprot:K7EJE8;uniprot:K7EKE6;uniprot:K7ERR6;uniprot:K7ER27;uniprot:P36776;uniprot:K7EQF8;uniprot:K7ER56
NPLOC4 Protein uniprot:Q8TAT6 "AKA NPL4" ensembl:ENSG00000182446 ncbigene:55666 hgnc.symbol:NPLOC4 uniprot:Q8TAT6;uniprot:A0A0D9SFI9;uniprot:I3L4U9;uniprot:I3L4S2;uniprot:K7EJN1;uniprot:I3L283;uniprot:I3L281;uniprot:I3L3I1;uniprot:A0A024R8R4;uniprot:I3L0W3
p47 Protein uniprot:P08567 "" ensembl:ENSG00000115956 ncbigene:5341 hgnc.symbol:PLEK uniprot:P08567
MFN1 Protein uniprot:Q8IWA4 "" ensembl:ENSG00000171109 ncbigene:55669 hgnc.symbol:MFN1 uniprot:C9JQT7;uniprot:Q8IWA4;uniprot:H7C5H5;uniprot:C9JXQ1
UBXD1/UBXN6 Protein uniprot:Q9BZV1 "" ensembl:ENSG00000167671 ncbigene:80700 hgnc.symbol:UBXN6 uniprot:K7ELN1;uniprot:K7EP32;uniprot:Q9BZV1;uniprot:K7EJ02
MCL1 Protein uniprot:Q07820 "" ensembl:ENSG00000143384 ncbigene:574406;ncbigene:4170 hgnc.symbol:MCL1 uniprot:Q07820;uniprot:A0A087WT64;uniprot:A0A7I2V2W2
MARCHF5 Protein uniprot:Q9NX47 "MITOL/March5" ensembl:ENSG00000198060 ncbigene:54708 hgnc.symbol:MARCHF5 uniprot:Q9NX47
7 changes: 4 additions & 3 deletions _pathways/WP3611.md
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Expand Up @@ -23,19 +23,20 @@ citedin:
title: 'A Practical Strategy for Exploring the Pharmacological Mechanism of Luteolin
Against COVID-19/Asthma Comorbidity: Findings of System Pharmacology and Bioinformatics
Analysis (2024)'
communities: []
description: Photodynamic therapy may induce an acute stress response mediated by
mitogen-activated protein kinase kinase kinase 5 (MAP3K5), its downstream MAPKs
that target c-Jun N-terminal kinase (JNK, MAPK8) and p38MAPK, and the transcription
factors of the activator protein 1 (AP-1) family.
last-edited: 2021-12-09
last-edited: 2024-12-20
ndex: 274026a0-8b67-11eb-9e72-0ac135e8bacf
organisms:
- Homo sapiens
redirect_from:
- /index.php/Pathway:WP3611
- /instance/WP3611
- /instance/WP3611_r120501
revision: r120501
- /instance/WP3611_r136148
revision: r136148
schema-jsonld:
- '@context': https://schema.org/
'@id': https://wikipathways.github.io/pathways/WP3611.html
Expand Down
6 changes: 3 additions & 3 deletions _pathways/WP4030.md
Original file line number Diff line number Diff line change
Expand Up @@ -30,15 +30,15 @@ description: 'The short-chain fatty acids (SCFA) acetate, propionate and butyrat
transporter type 4 (GLUT4) and decreases glycolysis. In addition to AMPK activation,
SCFA might also induce peroxisome proliferator activated receptor delta (PPARD)
expression, another process contributing to enhanced fat oxidation levels. '
last-edited: 2024-12-19
last-edited: 2024-12-20
ndex: 331ac03a-8b69-11eb-9e72-0ac135e8bacf
organisms:
- Homo sapiens
redirect_from:
- /index.php/Pathway:WP4030
- /instance/WP4030
- /instance/WP4030_r136104
revision: r136104
- /instance/WP4030_r136145
revision: r136145
schema-jsonld:
- '@context': https://schema.org/
'@id': https://wikipathways.github.io/pathways/WP4030.html
Expand Down
29 changes: 18 additions & 11 deletions _pathways/WP4814.md
Original file line number Diff line number Diff line change
@@ -1,54 +1,60 @@
---
annotations:
- id: CL:0000178
parent: native cell
type: Cell Type Ontology
value: Leydig cell
- id: DOID:1923
type: Disease Ontology
value: disorder of sexual development
- id: PW:0000003
parent: signaling pathway
type: Pathway Ontology
value: signaling pathway
- id: DOID:1923
type: Disease Ontology
value: disorder of sexual development
authors:
- JenG
- Fehrhart
- Eweitz
- Khanspers
citedin:
- link: 10.1186/s13148-023-01612-8
title: 'Methylation analysis by targeted bisulfite sequencing in large for gestational
age (LGA) newborns: the LARGAN cohort (2024)'
communities:
- RareDiseases
description: This pathway describes the sex determination in a fetus. For the male
description: 'This pathway describes the sex determination in a fetus. For the male
development the SRY gene plays an important role, leading to the SOX9 expression
which will then stimulate AMH expression and testis development. In adults DMRT1
and SOX9 inhibit the FOXL2 gene, maintaining the male sex determination. For the
female development the WNT4 and RSPO1 signaling pathways lead to beta-catenin accumulation
which inhibits SOX9 and the development of ovaries. In adults, Foxl2 repress Sox9
expression to maintain ovarian identity.
last-edited: 2021-05-07
expression to maintain ovarian identity. '
last-edited: 2024-12-20
ndex: b6c7699b-8b6d-11eb-9e72-0ac135e8bacf
organisms:
- Homo sapiens
redirect_from:
- /index.php/Pathway:WP4814
- /instance/WP4814
- /instance/WP4814_r116554
revision: r116554
- /instance/WP4814_r136147
revision: r136147
schema-jsonld:
- '@context': https://schema.org/
'@id': https://wikipathways.github.io/pathways/WP4814.html
'@type': Dataset
creator:
'@type': Organization
name: WikiPathways
description: This pathway describes the sex determination in a fetus. For the male
development the SRY gene plays an important role, leading to the SOX9 expression
description: 'This pathway describes the sex determination in a fetus. For the
male development the SRY gene plays an important role, leading to the SOX9 expression
which will then stimulate AMH expression and testis development. In adults DMRT1
and SOX9 inhibit the FOXL2 gene, maintaining the male sex determination. For
the female development the WNT4 and RSPO1 signaling pathways lead to beta-catenin
accumulation which inhibits SOX9 and the development of ovaries. In adults, Foxl2
repress Sox9 expression to maintain ovarian identity.
repress Sox9 expression to maintain ovarian identity. '
keywords:
- AMH
- CTNNB1
- DHH
- DMRT1
- FGF9
Expand All @@ -62,6 +68,7 @@ schema-jsonld:
- SRY
- WNT4
- WT1
- ZFPM2
license: CC0
name: Somatic sex determination
seo: CreativeWork
Expand Down
26 changes: 19 additions & 7 deletions _pathways/WP5504.md
Original file line number Diff line number Diff line change
@@ -1,13 +1,13 @@
---
annotations:
- id: PW:0000013
parent: disease pathway
type: Pathway Ontology
value: disease pathway
- id: PW:0001669
parent: disease pathway
type: Pathway Ontology
value: mitochondrial disease pathway
- id: PW:0000013
parent: disease pathway
type: Pathway Ontology
value: disease pathway
authors:
- Egonw
- DeSl
Expand All @@ -20,15 +20,15 @@ description: This pathway lists several genes involved in mechanisms involved in
pathway was inspired by Figure 46.1 of Edition 5, Chapter 46 of the book of Blau
(ISBN 9783030677268). Genes linked to a disease in this book chapter are depicted
in red.
last-edited: 2024-12-19
last-edited: 2024-12-20
ndex: null
organisms:
- Homo sapiens
redirect_from:
- /index.php/Pathway:WP5504
- /instance/WP5504
- /instance/WP5504_r136128
revision: r136128
- /instance/WP5504_r136141
revision: r136141
schema-jsonld:
- '@context': https://schema.org/
'@id': https://wikipathways.github.io/pathways/WP5504.html
Expand Down Expand Up @@ -58,17 +58,23 @@ schema-jsonld:
- HSPA9
- HSPD1
- HTRA2
- LONP1
- MARCHF5
- MCL1
- MFF
- MFN1
- MFN2
- MICOS13
- MICU1
- MIPEP
- MSTO1
- MSTO1?
- NADPH
- NPLOC4
- OPA1
- OPA3
- OPA3?
- OXA1L
- PAM16
- PINK1
- PITRM1
Expand All @@ -93,12 +99,18 @@ schema-jsonld:
- TRAK1
- TXN2
- TXNRD2
- UBXD1/UBXN6
- UBXN1
- UFD1
- USP9X
- VCP
- 'XPNPEP3 '
- YME1L1
- arginine
- biotin
- glutamate
- ornithine
- p47
- pyrroline-5-carboxylate
- α-Ketoglutarate
license: CC0
Expand Down
10 changes: 5 additions & 5 deletions _pathways/WP5505.md
Original file line number Diff line number Diff line change
@@ -1,21 +1,21 @@
---
annotations:
- id: PW:0000002
parent: classic metabolic pathway
type: Pathway Ontology
value: classic metabolic pathway
- id: PW:0000161
parent: classic metabolic pathway
type: Pathway Ontology
value: glycosylphosphatidylinositol anchor biosynthetic pathway
- id: PW:0000002
parent: classic metabolic pathway
type: Pathway Ontology
value: classic metabolic pathway
authors:
- Egonw
- Mkutmon
citedin: ''
communities:
- MetaKids
description: Literature reference
last-edited: 2024-12-19
last-edited: 2024-12-20
ndex: null
organisms:
- Homo sapiens
Expand Down
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