NEXMIF - neurite extension and migration factor-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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340533 NEXMIF

基因描述

Type	Description
Definition	neurite extension and migration factor

研究结论

Date	Results	Publications
2019-05-25 12:36:00	Clinical spectrum of KIAA2022 pathogenic variants in males.[review]	29693785
2019-03-23 12:00:00	This study supports KIAA2022 as a novel cause of X-linked dominant intellectual disability, and broadens the phenotype for KIAA2022 mutations.	27568816
2018-10-13 11:44:00	This is a study of the novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.	29717186
2017-08-26 11:24:00	Heterozygous loss of KIAA2022 expression is a cause of intellectual disability in females. Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.	27358180
2016-02-20 10:14:00	Two unrelated patients with X-linked intellectual disability found having the KIAA2022 mutation phenotype.	25900396

名称对应

Type	IDs
Synonymous	KIAA2022, KIDLIA, MRX98, XPN
Gene	UniProtKB-ID: NEXMI_HUMAN UniprotKB: Q5QGS0 UniParc: UPI00001C207B EMBL: AL139395, AY563507, BC152557, AL390035, AB095942 Ensembl: ENSG00000050030 KO: hsa:340533
Nucleutide sequences	EMBL-CDS: AAT67985.1, AAI52558.1, BAC23118.1 Ensembl_TRS: ENST00000616200, ENST00000055682
Protein sequencees	Ensembl_PRO: ENSP00000480284, ENSP00000055682 RefSeq: NP_001008537.1
Others	UniRef100: UniRef100_Q5QGS0 UniRef90: UniRef90_Q5QGS0 UniRef50: UniRef50_Q5QGS0 UniGene: Hs.124128 CCDS: CCDS35337.1

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
29717186	Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother. J. Hum. Genet. Nelle Lambert , Corinne Dauve , Emmanuelle Ranza , Periklis Makrythanasis , Federico Santoni , FrÃ©dÃ©rique Sloan-BÃ©na , Stefania Gimelli , Jean-Louis Blouin , Michel Guipponi , Armand Bottani , Stylianos E Antonarakis , Markus M Kosel , Joel Fluss , Ariane Paoloni-Giacobino	2018-07-01	-
29676528	E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. FEBS J. Richa Khanna , Vidhya Krishnamoorthy , Veena K Parnaik	2018-06-01	-
29693785	Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature. Am J Med Genet A Melissa Lorenzo , Irene Stolte-Dijkstra , Patrick van Rheenen , Ronald Garth Smith , Tom Scheers , Jagdeep S Walia	2018-06-01	-
27568816	De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Clin. Genet. R Webster , M T Cho , K Retterer , F Millan , C Nowak , J Douglas , A Ahmad , G V Raymond , M R Johnson , A Pujol , A Begtrup , D McKnight , O Devinsky , W K Chung	2017-05-01	-
27358180	De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. J. Med. Genet. Iris M de Lange , Katherine L Helbig , Sarah Weckhuysen , Rikke S MÃ¸ller , Milen Velinov , Natalia Dolzhanskaya , Eric Marsh , Ingo Helbig , Orrin Devinsky , Sha Tang , Heather C Mefford , Candace T Myers , Wim van Paesschen , Pasquale Striano , Koen van Gassen , Marjan van Kempen , Carolien G F de Kovel , Juliette Piard , Berge A Minassian , Marjan M Nezarati , AndrÃ© Pessoa , Aurelia Jacquette , Bridget Maher , Simona Balestrini , Sanjay Sisodiya , Marie Therese Abi Warde , Anne De St Martin , Jamel Chelly , EuroEPINOMICS-RES MAE working group , Ruben van 't Slot , Lionel Van Maldergem , Eva H Brilstra , Bobby P C Koeleman	2016-12-01	-
27822498	The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and Î´-Catenin Signaling. eNeuro James Gilbert , Heng-Ye Man	2016-10-28	-
25394356	A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism. Clin. Genet. A Charzewska , S RzoÅca , M Janeczko , M Nawara , M Smyk , J Bal , D Hoffman-Zacharska	2015-09-01	KIAA2022
25900396	Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. Am J Med Genet A Yukiko Kuroda , Ikuko Ohashi , Takuya Naruto , Kazumi Ida , Yumi Enomoto , Toshiyuki Saito , Jun-Ichi Nagai , Takahito Wada , Kenji Kurosawa	2015-06-01	-
24071057	XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration. Neurochem. Int. Takuya Magome , Tsuyoshi Hattori , Manabu Taniguchi , Toshiko Ishikawa , Shingo Miyata , Kohei Yamada , Hironori Takamura , Shinsuke Matsuzaki , Akira Ito , Masaya Tohyama , Taiichi Katayama	2013-11-01	C77370, KIAA2022
23615299	Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. Hum. Mol. Genet. Lionel Van Maldergem , Qingming Hou , Vera M Kalscheuer , MarlÃ¨ne Rio , Martine Doco-Fenzy , Ana Medeira , Arjan P M de Brouwer , Christelle Cabrol , Stefan A Haas , Pierre Cacciagli , SÃ©bastien Moutton , Emilie Landais , Jacques Motte , Laurence Colleaux , CÃ©line Bonnet , Laurent Villard , Juliette Dupont , Heng-Ye Man	2013-08-15	RGD1561931, KIAA2022

研究热度

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