PHEX - phosphate regulating endopeptidase homolog X-linked-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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5251 PHEX

基因描述

Type	Description
Definition	phosphate regulating endopeptidase homolog X-linked

研究结论

Date	Results	Publications
2021-04-13 10:16:00	Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets.	32772199
2020-11-28 13:15:00	Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.	31927522
2020-10-31 13:14:00	Mosaicism in 2 cases of X-linked hypophosphatemia.", trans "Mosaicismo en 2 casos de hipofosfatemia ligada al cromosoma X.	31474501
2020-03-21 10:53:00	Results provide genetic and molecular evidence that the p.Trp403* nonsense variant in PHEX causes X-linked hypophosphatemia (XLH). Moreover, a novel molecular signaling pathway was identified for the pathogenesis of XLH, which consists of a PHEX mutation, upregulation of FGF23, and inhibition of p38 MAPK activation.	30920082
2019-11-09 12:27:00	X-linked hypophosphatemia (XLH) is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported.	29460029

名称对应

Type	IDs
Synonymous	HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
Gene	UniProtKB-ID: PHEX_HUMAN, B4DNS0_HUMAN, B4DWG8_HUMAN UniprotKB: P78562, B4DNS0, B4DWG8 UniParc: UPI0000033C42, UPI00017A8032, UPI00017A79A0 EMBL: Y08112, BC105057, Y08122, Y08113, AK301528, Y08117, Y08119, Y08130, AH004966, U73024, AD000712, Y08121, Y08118, BC105059, Y08111, Y08120, U82970, U87284, Y08125, Y08127, Y08129, Y08123, Y08116, Y08132, AK298030, Y08114, U60475, Y08126, U75645, Y08131, Y10196, Y08128, Y08124, Y08115 Ensembl: ENSG00000102174 KO: hsa:5251
Nucleutide sequences	EMBL-CDS: AAB42219.1, AAB47749.1, AAI05060.1, AAB47562.1, CAA71258.1, AAB51604.1, CAA69326.1, AAD08630.1, AAC24487.1, AAC50552.1, AAI05058.1, BAG60332.1, BAG63030.1 Ensembl_TRS: ENST00000379374
Protein sequencees	Ensembl_PRO: ENSP00000368682 RefSeq: XP_011543838.1, NP_000435.3, XP_024308158.1, NP_001269683.1, XP_016885068.1, XP_011543835.1
Others	UniRef100: UniRef100_P78562, UniRef100_B4DNS0 UniRef90: UniRef90_P78562 UniRef50: UniRef50_P78562 UniGene: Hs.495834 CCDS: CCDS14204.1

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mRNA

Protein

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Description

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全选

Pubmed编号	文献信息	发表日期	相关基因
32772199	Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets. J Bone Miner Metab Giampiero I Baroncelli , Elisa Zampollo , Mario Manca , Benedetta Toschi , Silvano Bertelloni , Angela Michelucci , Alessandro Isola , Alessandra Bulleri , Diego Peroni , Maria Rita Giuca	2021-03-01	-
31927522	Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation. J. Pediatr. Endocrinol. Metab. Yongting Zhao , Fan Yang , Lihong Wang , Hui Che	2020-02-25	-
31474501	Mosaicism in 2 cases of X-linked hypophosphatemia. Endocrinol Diabetes Nutr (Engl Ed) JosÃ© JesÃºs Broseta , Luis Carlos LÃ³pez-Romero , Juan Antonio CerÃ³n , Santiago MendizÃ¡bal , Julio HernÃ¡ndez-Jaras	2020-01-01	-
30920082	Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling. Hum. Mutat. Wei Li , Lingfang Tan , Xin Li , Xiaoyu Zhang , Xiaoyan Wu , Hongbo Chen , Lihua Hu , Xiaobei Wang , Xiaoping Luo , Fan Wang , Chengqi Xu , Qiuyun Chen , Runming Jin , Qing K Wang	2019-07-01	-
30406928	Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic rickets. J. Endocrinol. Invest. P Jin , L H Wang , Z H Mo	2019-03-01	-
30440055	Significance of NF-kappaB signaling and PARP1 activity in the TNF-induced inhibition of PHEX gene expression in human osteoblasts. Acta Biochim. Pol. Urszula KÄdzierska , Åukasz Banasiak , PaweÅ Kiela , PaweÅ Marek Majewski	2018-11-15	-
30298486	[Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Shu Zhang , Qigang Zhang , Longfei Cheng , Xiaoli Huang , Yuan Peng , Zhe Liang , Haowei Guo , Qiong Pan	2018-10-10	-
29460029	Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. J. Inherit. Metab. Dis. Douglas Chesher , Michael Oddy , Ulpee Darbar , Parag Sayal , Adrian Casey , Aidan Ryan , Annalisa Sechi , Charlotte Simister , Aoife Waters , Yehani Wedatilake , Robin H Lachmann , Elaine Murphy	2018-09-01	-
29858904	Genetic analysis of three families with X-linked dominant hypophosphatemic rickets. J Pediatr Endocrinol Metab Xinfu Lin , Yaobin Zhu , Jiewei Luo , Jianbin Huang	2018-07-26	-
29393334	Two novel variants of the PHEX gene in patients with Xâlinked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families. Int. J. Mol. Med. Hong Liao , Hong-Mei Zhu , Hong-Qian Liu , Ling-Ping Li , Shan-Ling Liu , He Wang	2018-04-01	-

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