OCA at 14:40, 20 September 2023

OCA — Wed, 20 Sep 2023 14:40:38 GMT

←Older revision		Revision as of 14:40, 20 September 2023
Line 1:		Line 1:
-	'''Unreleased structure'''

-	~~The entry~~ 8edn is ~~ON HOLD until Paper Publication~~	+	==Cryo-EM structure of the full-length human NF1 dimer==
-		+	<StructureSection load='8edn' size='340' side='right'caption='[[8edn]], [[Resolution\|resolution]] 3.80Å' scene=''>
-	~~Authors~~: ~~Darling~~, J.E., ~~Merk~~, A., ~~Grisshammer, R~~., ~~Ognjenovic, J~~.	+	== Structural highlights ==
-		+	<table><tr><td colspan='2'>[[8edn]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=8EDN OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8EDN FirstGlance]. <br>
-	~~Description~~: ~~Cryo~~-~~EM structure~~ of the ~~full~~-~~length human~~ NF1 ~~dimer~~	+	</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models\|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution\|Resolution]] 3.8Å</td></tr>
-	[[Category: ~~Unreleased~~ Structures]]	+	<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8edn FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8edn OCA], [https://pdbe.org/8edn PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8edn RCSB], [https://www.ebi.ac.uk/pdbsum/8edn PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8edn ProSAT]</span></td></tr>
-	[[Category: ~~Merk, A~~]]	+	</table>
-	[[Category: Grisshammer, R]]	+	== Disease ==
-	[[Category: ~~Ognjenovic, J~~]]	+	[https://www.uniprot.org/uniprot/NF1_HUMAN NF1_HUMAN] Defects in NF1 are the cause of neurofibromatosis type 1 (NF1) [MIM:[https://omim.org/entry/162200 162200]; also known as von Recklinghausen syndrome. A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.<ref>PMID:2114220</ref> <ref>PMID:1302608</ref> <ref>PMID:7981679</ref> <ref>PMID:8081387</ref> <ref>PMID:8544190</ref> <ref>PMID:8834249</ref> <ref>PMID:8807336</ref> <ref>PMID:9003501</ref> <ref>PMID:9150739</ref> <ref>PMID:9101300</ref> <ref>PMID:9298829</ref> <ref>PMID:9668168</ref> <ref>PMID:10336779</ref> <ref>PMID:11258625</ref> <ref>PMID:10220149</ref> <ref>PMID:10712197</ref> <ref>PMID:10607834</ref> <ref>PMID:10980545</ref> <ref>PMID:11735023</ref> <ref>PMID:11857752</ref> <ref>PMID:12522551</ref> <ref>PMID:12552569</ref> <ref>PMID:12746402</ref> <ref>PMID:15523642</ref> <ref>PMID:15146469</ref> <ref>PMID:15060124</ref> <ref>PMID:15520408</ref> <ref>PMID:15948193</ref> <ref>PMID:21838856</ref> Defects in NF1 are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:[https://omim.org/entry/607785 607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. Germline mutations of NF1 account for the association of JMML with type 1 neurofibromatosis (NF1). Defects in NF1 are the cause of Watson syndrome (WS) [MIM:[https://omim.org/entry/193520 193520]. WS is characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. WS is considered as an atypical form of NF1. Defects in NF1 are a cause of familial spinal neurofibromatosis (FSNF) [MIM:[https://omim.org/entry/162210 162210]. Familial spinal NF is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.<ref>PMID:11704931</ref> Defects in NF1 are a cause of neurofibromatosis-Noonan syndrome (NFNS) [MIM:[https://omim.org/entry/601321 601321]. NFNS is characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.<ref>PMID:12707950</ref> <ref>PMID:16380919</ref> <ref>PMID:19845691</ref> Defects in NF1 may be a cause of colorectal cancer (CRC) [MIM:[https://omim.org/entry/114500 114500].
-	[[Category: ~~Darling,~~ J.E]]	+	== Function ==
		+	[https://www.uniprot.org/uniprot/NF1_HUMAN NF1_HUMAN] Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.<ref>PMID:2121371</ref>
		+	== References ==
		+	<references/>
		+	__TOC__
		+	</StructureSection>
		+	[[Category: Homo sapiens]]
		+	[[Category: Large Structures]]
		+	[[Category: Darling JE]]
		+	[[Category: Grisshammer R]]
		+	[[Category: Merk A]]
		+	[[Category: Ognjenovic J]]

OCA at 03:58, 26 October 2022

OCA — Wed, 26 Oct 2022 03:58:03 GMT

←Older revision		Revision as of 03:58, 26 October 2022
Line 1:		Line 1:
	'''Unreleased structure'''		'''Unreleased structure'''

-	The entry 8edn is ON HOLD	+	The entry 8edn is ON HOLD until Paper Publication

	Authors: Darling, J.E., Merk, A., Grisshammer, R., Ognjenovic, J.		Authors: Darling, J.E., Merk, A., Grisshammer, R., Ognjenovic, J.

OCA: Protected "8edn" [edit=sysop:move=sysop]

OCA — Wed, 14 Sep 2022 05:49:05 GMT

Protected "8edn" [edit=sysop:move=sysop]

←Older revision

Revision as of 05:49, 14 September 2022

OCA: New page: '''Unreleased structure''' The entry 8edn is ON HOLD Authors: Darling, J.E., Merk, A., Grisshammer, R., Ognjenovic, J. Description: Cryo-EM structure of the full-length human NF1 dimer...

OCA — Wed, 14 Sep 2022 05:49:04 GMT

New page: '''Unreleased structure''' The entry 8edn is ON HOLD Authors: Darling, J.E., Merk, A., Grisshammer, R., Ognjenovic, J. Description: Cryo-EM structure of the full-length human NF1 dimer...

New page

'''Unreleased structure'''

The entry 8edn is ON HOLD

Authors: Darling, J.E., Merk, A., Grisshammer, R., Ognjenovic, J.

Description: Cryo-EM structure of the full-length human NF1 dimer
[[Category: Unreleased Structures]]
[[Category: Merk, A]]
[[Category: Grisshammer, R]]
[[Category: Ognjenovic, J]]
[[Category: Darling, J.E]]

8edn - Revision history

OCA at 14:40, 20 September 2023

OCA at 03:58, 26 October 2022

OCA: Protected "8edn" [edit=sysop:move=sysop]

OCA: New page: '''Unreleased structure''' The entry 8edn is ON HOLD Authors: Darling, J.E., Merk, A., Grisshammer, R., Ognjenovic, J. Description: Cryo-EM structure of the full-length human NF1 dimer...