PMC Links for GEO Profiles (Select 123607377) - PMC

Links from GEO Profiles

Items: 1 to 20 of 42

<< First< Prev

Page of 3

Select item 112025051.

A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene

Gloria Fraga, M. Alba Herreros, Marc Pybus, Miriam Aza-Carmona, Melissa Pilco-Teran, Mónica Furlano, M. José García-Borau, Roser Torra, Elisabet Ars

Genes (Basel) 2024 Jun; 15(6): 679. Published online 2024 May 24. doi: 10.3390/genes15060679

PMCID:: PMC11202505

Abstract Article PDF–509K

Select item 104496932.

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

Jian Ma, Ye Zhang, Xiaoxiao Ding, Zhijiang Liang, Chaoxiang Yang, Zhi Deng, Hui He, Zhihong Guan, Chunhua Zeng, Yunting Lin, Xianqiong Luo

Calcif Tissue Int. 2023; 113(3): 266–275. Published online 2023 Jun 6. doi: 10.1007/s00223-023-01104-0

PMCID:: PMC10449693

Abstract Article PDF–1.6M

Select item 101989393.

X-Linked Hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant

Julio Soto Barros, Sabrina I. Sanchez, Kristin Cabral, Alan H. Beggs, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Thomas O. Carpenter

Bone. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: Bone. 2023 Apr 13; 172: 116763. Published online 2023 Apr 13. doi: 10.1016/j.bone.2023.116763

PMCID:: PMC10198939

Abstract Article PDF–760K

Select item 97306574.

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets

Nahid Tavana, Tzer Hwu Ting, Kaitao Lai, Marina L. Kennerson, Karuppiah Thilakavathy

Ital J Pediatr. 2022; 48: 193. Published online 2022 Dec 8. doi: 10.1186/s13052-022-01385-5

PMCID:: PMC9730657

Abstract Article PDF–2.2M

Select item 92996125.

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)

Soodabeh Sarafrazi, Sean C. Daugherty, Nicole Miller, Patrick Boada, Thomas O. Carpenter, Lauren Chunn, Kariena Dill, Michael J. Econs, Scott Eisenbeis, Erik A. Imel, Britt Johnson, Mark J. Kiel, Stan Krolczyk, Prameela Ramesan, Rebecca Truty, Yves Sabbagh

Hum Mutat. 2022 Feb; 43(2): 143–157. Published online 2021 Dec 5. doi: 10.1002/humu.24296

PMCID:: PMC9299612

Abstract Article PDF–2.9M

Select item 87784636.

Cellular and Molecular Alterations Underlying Abnormal Bone Growth in X-Linked Hypophosphatemia

Rocío Fuente, María García-Bengoa, Ángela Fernández-Iglesias, Helena Gil-Peña, Fernando Santos, José Manuel López

Int J Mol Sci. 2022 Jan; 23(2): 934. Published online 2022 Jan 15. doi: 10.3390/ijms23020934

PMCID:: PMC8778463

Abstract Article PDF–1.3M

Select item 81650307.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 74347428.

A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family

Baowei Li, Xiong Wang, Xiaodan Hao, Yanran Liu, Yin Wang, Chan Shan, Xiang Ao, Ying Liu, HongChu Bao, Peifeng Li

Mol Genet Genomic Med. 2020 Aug; 8(8): e1262. Published online 2020 Jun 8. doi: 10.1002/mgg3.1262

PMCID:: PMC7434742

Abstract Article PDF–1.2M

Select item 73891399.

2例X-连锁低血磷性佝偻病患者PHEX基因新发突变的研究

冉情, 熊丰, 朱岷, 邓蕾丽, 雷培芸, 罗雁红, 曾燕, 朱高慧, 宋萃

Zhongguo Dang Dai Er Ke Za Zhi. 2017 May 25; 19(5): 534–538. Chinese. doi: 10.7499/j.issn.1008-8830.2017.05.011

PMCID:: PMC7389139

Abstract Article PDF–1.6M

Select item 642956710.

Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures

B.R. Coyac, B. Hoac, P. Chafey, G. Falgayrac, L. Slimani, P.S. Rowe, G. Penel, A. Linglart, M.D. McKee, C. Chaussain, C. Bardet

J Dent Res. 2018 Feb; 97(2): 184–191. Published online 2017 Sep 7. doi: 10.1177/0022034517728497

PMCID:: PMC6429567

Abstract Article PDF–1.6M

Select item 613318711.

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

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

J Inherit Metab Dis. 2018; 41(5): 865–876. Published online 2018 Feb 19. doi: 10.1007/s10545-018-0147-6

PMCID:: PMC6133187

Abstract Article PDF–3.6M

Select item 583713212.

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

Sezer Acar, Huda A. BinEssa, Korcan Demir, Roua A. Al-Rijjal, Minjing Zou, Gönül Çatli, Ahmet Anık, Anwar F. Al-Enezi, Seçil Özışık, Manar S. A. Al-Faham, Ayhan Abacı, Bumin Dündar, Walaa E. Kattan, Maysoon Alsagob, Salih Kavukçu, Hamdi E. Tamimi, Brian F. Meyer, Ece Böber, Yufei Shi

PLoS One. 2018; 13(3): e0193388. Published online 2018 Mar 5. doi: 10.1371/journal.pone.0193388

PMCID:: PMC5837132

Abstract Article PDF–9.2M

Select item 582500313.

Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients

Pallav Bhatnagar, Shirley Purvis, Emily Barron-Casella, Michael R DeBaun, James F Casella, Dan E Arking, Jeffrey R Keefer

J Hum Genet. Author manuscript; available in PMC 2018 Feb 23.

Published in final edited form as: J Hum Genet. 2011 Apr; 56(4): 316–323. Published online 2011 Feb 17. doi: 10.1038/jhg.2011.12

PMCID:: PMC5825003

Abstract Article PDF–1.5M

Select item 581023314.

Two novel variants of the PHEX gene in patients with X-linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families

Hong Liao, Hong-Mei Zhu, Hong-Qian Liu, Ling-Ping Li, Shan-Ling Liu, He Wang

Int J Mol Med. 2018 Apr; 41(4): 2012–2020. Published online 2018 Jan 18. doi: 10.3892/ijmm.2018.3402

PMCID:: PMC5810233

Abstract Article PDF–778K

Select item 553161115.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 532073116.

Herpes simplex virus 1 infection dampens the immediate early antiviral innate immunity signaling from peroxisomes by tegument protein VP16

Chunfu Zheng, Chenhe Su

Virol J. 2017; 14: 35. Published online 2017 Feb 21. doi: 10.1186/s12985-017-0709-5

PMCID:: PMC5320731

Abstract Article PDF–770K

Select item 511777217.

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets

Shan-Shan Li, Jie-Mei Gu, Wei-Jia Yu, Jin-Wei He, Wen-Zhen Fu, Zhen-Lin Zhang

Int J Mol Med. 2016 Dec; 38(6): 1703–1714. Published online 2016 Nov 7. doi: 10.3892/ijmm.2016.2796

PMCID:: PMC5117772

Abstract Article PDF–1.3M

Select item 456628618.

Downregulation of PHEX in multibacillary leprosy patients: observational cross-sectional study

Sandra R. Boiça Silva, Ximena Illarramendi, Antonio J. Tempone, Pedro H. L. Silva, José A. C. Nery, Alexandra M. V. Monteiro, Maria Cristina V. Pessolani, Edson Boasquevisque, Euzenir N. Sarno, Geraldo M. B. Pereira, Danuza Esquenazi

J Transl Med. 2015; 13: 296. Published online 2015 Sep 11. doi: 10.1186/s12967-015-0651-5

PMCID:: PMC4566286

Abstract Article PDF–1.2M

Select item 447959319.

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Sara L. Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G. Sampson, Vijay Kher, Sidharth K. Sethi, Edgar A. Otto

PLoS One. 2015; 10(6): e0130729. Published online 2015 Jun 24. doi: 10.1371/journal.pone.0130729

PMCID:: PMC4479593

Abstract Article PDF–1.4M

Select item 417058520.

Genome-Wide Analysis of Polymorphisms Associated with Cytokine Responses in Smallpox Vaccine Recipients

Richard B. Kennedy, Inna G. Ovsyannikova, V. Shane Pankratz, Iana H. Haralambieva, Robert A. Vierkant, Gregory A. Poland

Hum Genet. Author manuscript; available in PMC 2014 Sep 22.

Published in final edited form as: Hum Genet. 2012 Sep; 131(9): 1403–1421. Published online 2012 May 19. doi: 10.1007/s00439-012-1174-2

PMCID:: PMC4170585

Abstract Article PDF–594K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from GEO Profiles

Items: 1 to 20 of 42

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity