BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A. Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. Am J Hum Genet 2018;102:364-74. [PMID: 29429573 DOI: 10.1016/j.ajhg.2018.01.009] [Cited by in Crossref: 23] [Cited by in F6Publishing: 11] [Article Influence: 5.8] [Reference Citation Analysis]
Number Citing Articles
1 Goulet O, Pigneur B, Charbit-henrion F. Congenital enteropathies involving defects in enterocyte structure or differentiation. Best Practice & Research Clinical Gastroenterology 2022. [DOI: 10.1016/j.bpg.2021.101784] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
2 Lechuga S, Cartagena-Rivera AX, Khan A, Crawford BI, Narayanan V, Conway DE, Lehtimäki J, Lappalainen P, Rieder F, Longworth MS, Ivanov AI. A myosin chaperone, UNC-45A, is a novel regulator of intestinal epithelial barrier integrity and repair. FASEB J 2022;36:e22290. [PMID: 35344227 DOI: 10.1096/fj.202200154R] [Reference Citation Analysis]
3 Tran Mau-Them F, Moutton S, Racine C, Vitobello A, Bruel AL, Nambot S, Kushner SA, de Vrij FMS, Lehalle D, Jean-Marçais N, Lecoquierre F, Delanne J, Thevenon J, Poe C, Jouan T, Chevarin M, Geneviève D, Willems M, Coubes C, Houcinat N, Masurel-Paulet A, Mosca-Boidron AL, Tisserant E, Callier P, Sorlin A, Duffourd Y, Faivre L, Philippe C, Thauvin-Robinet C. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders. Hum Genet 2020;139:1381-90. [PMID: 32399599 DOI: 10.1007/s00439-020-02178-8] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
4 Bruel A, Vitobello A, Mau-them FT, Nambot S, Duffourd Y, Quéré V, Kuentz P, Garret P, Thevenon J, Moutton S, Lehalle D, Jean-marçais N, Garde A, Delanne J, Lefebvre M, Lecoquierre F, Trost D, Cho M, Begtrup A, Telegrafi A, Vabres P, Mosca-boidron A, Callier P, Philippe C, Faivre L, Thauvin-robinet C; Orphanomix Physicians’ Group. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases. Genet Med 2019;21:1657-61. [DOI: 10.1038/s41436-018-0383-z] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 2.3] [Reference Citation Analysis]
5 Johnson JL. Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders. Front Mol Biosci 2021;8:787260. [PMID: 34957217 DOI: 10.3389/fmolb.2021.787260] [Reference Citation Analysis]
6 Clemente V, Hoshino A, Meints J, Shetty M, Starr T, Lee M, Bazzaro M. UNC-45A Is Highly Expressed in the Proliferative Cells of the Mouse Genital Tract and in the Microtubule-Rich Areas of the Mouse Nervous System. Cells 2021;10:1604. [PMID: 34206743 DOI: 10.3390/cells10071604] [Reference Citation Analysis]
7 Piper PW, Scott JE, Millson SH. UCS Chaperone Folding of the Myosin Head: A Function That Evolved before Animals and Fungi Diverged from a Common Ancestor More than a Billion Years Ago. Biomolecules 2022;12:1028. [PMID: 35892339 DOI: 10.3390/biom12081028] [Reference Citation Analysis]
8 Ibrahim SH, Kamath BM, Loomes KM, Karpen SJ. Cholestatic liver diseases of genetic etiology: Advances and controversies. Hepatology 2022;75:1627-46. [PMID: 35229330 DOI: 10.1002/hep.32437] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
9 Bruel AL, Nambot S, Quéré V, Vitobello A, Thevenon J, Assoum M, Moutton S, Houcinat N, Lehalle D, Jean-Marçais N, Chevarin M, Jouan T, Poë C, Callier P, Tisserand E, Philippe C, Them FTM, Duffourd Y, Faivre L, Thauvin-Robinet C; Orphanomix Physician’s Group. Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. Eur J Hum Genet 2019;27:1519-31. [PMID: 31231135 DOI: 10.1038/s41431-019-0442-1] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 4.0] [Reference Citation Analysis]
10 Maddirevula S, Alhebbi H, Alqahtani A, Algoufi T, Alsaif HS, Ibrahim N, Abdulwahab F, Barr M, Alzaidan H, Almehaideb A, AlSasi O, Alhashem A, Hussaini HA, Wali S, Alkuraya FS. Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants. Genet Med. 2018;. [PMID: 30250217 DOI: 10.1038/s41436-018-0288-x] [Cited by in Crossref: 28] [Cited by in F6Publishing: 26] [Article Influence: 7.0] [Reference Citation Analysis]
11 Duclaux-loras R, Lebreton C, Berthelet J, Charbit-henrion F, Nicolle O, Revenu de Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-bensussan N, Parlato M. UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking. Journal of Clinical Investigation 2022;132:e154997. [DOI: 10.1172/jci154997] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 Hassan S, Hertel P. Overview of Progressive Familial Intrahepatic Cholestasis. Clin Liver Dis 2022;26:371-90. [PMID: 35868680 DOI: 10.1016/j.cld.2022.03.003] [Reference Citation Analysis]
13 Jiang F, Takagi Y, Shams A, Heissler SM, Friedman TB, Sellers JR, Bird JE. The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness. J Biol Chem 2021;296:100243. [PMID: 33372036 DOI: 10.1074/jbc.RA120.014903] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 5.0] [Reference Citation Analysis]
14 Cardenas A, Fadadu RP, Van Der Laan L, Ward-Caviness C, Granger L, Diaz-Sanchez D, Devlin RB, Bind MA. Controlled human exposures to diesel exhaust: a human epigenome-wide experiment of target bronchial epithelial cells. Environ Epigenet 2021;7:dvab003. [PMID: 33859829 DOI: 10.1093/eep/dvab003] [Cited by in F6Publishing: 1] [Reference Citation Analysis]