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2013 5
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2022 14
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59 results
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Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S, Haep N, Gad MA, Soto-Gutierrez A, Squires JE, Florentino RM. Amirneni S, et al. World J Gastroenterol. 2020 Dec 21;26(47):7470-7484. doi: 10.3748/wjg.v26.i47.7470. World J Gastroenterol. 2020. PMID: 33384548 Free PMC article. Review.
A recently described type of PFIC is associated with a mutation in the MYO5B gene, important for the trafficking of BSEP and hepatocyte membrane polarization. ...
A recently described type of PFIC is associated with a mutation in the MYO5B gene, important for the trafficking of BSEP and hepatocy …
A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption.
Zhang YY, Fu ZY, Wei J, Qi W, Baituola G, Luo J, Meng YJ, Guo SY, Yin H, Jiang SY, Li YF, Miao HH, Liu Y, Wang Y, Li BL, Ma YT, Song BL. Zhang YY, et al. Science. 2018 Jun 8;360(6393):1087-1092. doi: 10.1126/science.aao6575. Science. 2018. PMID: 29880681
LIMA1 bridged NPC1L1, an essential protein for cholesterol absorption, to a transportation complex containing myosin Vb and facilitated cholesterol uptake. Similar to the human phenotype, Lima1-deficient mice displayed reduced cholesterol absorption and were resista …
LIMA1 bridged NPC1L1, an essential protein for cholesterol absorption, to a transportation complex containing myosin Vb and fa …
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des 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. Duclaux-Loras R, et al. J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997. J Clin Invest. 2022. PMID: 35575086 Free PMC article.
In keeping with impaired myosin VB function, UNC45AKO Caco-2 cells showed abnormal epithelial morphogenesis that was restored by full-length UNC45A, but not by mutant alleles. ...Taken together, our results provide evidence that UNC45A plays an essential role in epi …
In keeping with impaired myosin VB function, UNC45AKO Caco-2 cells showed abnormal epithelial morphogenesis that was restored …
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK, Walsh T, Casadei S, Eckert MM, Allenspach EJ, Hagin D, Segundo G, Lee MK, Gulsuner S, Shirts BH, Sullivan KE, Keller MD, Torgerson TR, King MC. Baxter SK, et al. J Allergy Clin Immunol. 2022 Jan;149(1):327-339. doi: 10.1016/j.jaci.2021.04.005. Epub 2021 Apr 20. J Allergy Clin Immunol. 2022. PMID: 33864888 Free PMC article.
RESULTS: Of 123 patients with FOXP3-negative IPEX-like disease, 48 (39%) carried damaging germline mutations in 1 of the following 27 genes: AIRE, BACH2, BCL11B, CARD11, CARD14, CTLA4, IRF2BP2, ITCH, JAK1, KMT2D, LRBA, MYO5B, NFKB1, NLRC4, POLA1, POMP, RAG1, SH2D1A, SKIV2L …
RESULTS: Of 123 patients with FOXP3-negative IPEX-like disease, 48 (39%) carried damaging germline mutations in 1 of the following 27 genes: …
MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation.
Wang L, Qiu YL, Xu HM, Zhu J, Li SJ, OuYang WX, Yang YF, Lu Y, Xie XB, Xing QH, Wang JS. Wang L, et al. Liver Int. 2022 Feb;42(2):402-411. doi: 10.1111/liv.15104. Epub 2021 Nov 29. Liver Int. 2022. PMID: 34811877
Only patients with biallelic MYO5B variants were enrolled. Nonsense, frameshift, canonical splice sites, initiation codon loss, and single exon or multiexon deletion were defined as null MYO5B variants. ...CONCLUSIONS: The phenotype of MYO5B deficiency was as …
Only patients with biallelic MYO5B variants were enrolled. Nonsense, frameshift, canonical splice sites, initiation codon loss, and s …
MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression.
Tomić TT, Olausson J, Rehammar A, Deland L, Muth A, Ejeskär K, Nilsson S, Kristiansson E, Wassén ON, Abel F. Tomić TT, et al. PLoS Genet. 2020 Jun 8;16(6):e1008803. doi: 10.1371/journal.pgen.1008803. eCollection 2020 Jun. PLoS Genet. 2020. PMID: 32511227 Free PMC article.
We recently reported novel recurrent nonsynonymous mutations in the MYO5B gene in metastatic PPGL. Here, we explored the functional impact of these MYO5B mutations, and analyzed MYO5B expression in primary PPGL tumor cases in relation to mutation status. ...I …
We recently reported novel recurrent nonsynonymous mutations in the MYO5B gene in metastatic PPGL. Here, we explored the functional i …
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS, Pylypenko O, Overeem AW, Zibouche M, Ferreira RJ, van der Velde KJ, Rings EHHM, Posovszky C, van der Sluijs P, Swertz MA, Houdusse A, van IJzendoorn SCD. Dhekne HS, et al. Hum Mutat. 2018 Mar;39(3):333-344. doi: 10.1002/humu.23386. Epub 2018 Jan 17. Hum Mutat. 2018. PMID: 29266534 Free PMC article. Review.
Microvillus inclusion disease (MVID) is a rare but fatal autosomal recessive congenital diarrheal disorder caused by MYO5B mutations. In 2013, we launched an open-access registry for MVID patients and their MYO5B mutations (www.mvid-central.org). Since then, additio …
Microvillus inclusion disease (MVID) is a rare but fatal autosomal recessive congenital diarrheal disorder caused by MYO5B mutations. …
Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.
Knowles BC, Roland JT, Krishnan M, Tyska MJ, Lapierre LA, Dickman PS, Goldenring JR, Shub MD. Knowles BC, et al. J Clin Invest. 2014 Jul;124(7):2947-62. doi: 10.1172/JCI71651. Epub 2014 Jun 2. J Clin Invest. 2014. PMID: 24892806 Free PMC article.
Microvillus inclusion disease (MVID) is a severe form of congenital diarrhea that arises from inactivating mutations in the gene encoding myosin Vb (MYO5B). We have examined the association of mutations in MYO5B and disruption of microvillar assembly a …
Microvillus inclusion disease (MVID) is a severe form of congenital diarrhea that arises from inactivating mutations in the gene encoding …
Loss of MYO5B Leads to Reductions in Na+ Absorption With Maintenance of CFTR-Dependent Cl- Secretion in Enterocytes.
Engevik AC, Kaji I, Engevik MA, Meyer AR, Weis VG, Goldstein A, Hess MW, Müller T, Koepsell H, Dudeja PK, Tyska M, Huber LA, Shub MD, Ameen N, Goldenring JR. Engevik AC, et al. Gastroenterology. 2018 Dec;155(6):1883-1897.e10. doi: 10.1053/j.gastro.2018.08.025. Epub 2018 Aug 23. Gastroenterology. 2018. PMID: 30144427 Free PMC article.
METHODS: We studied alterations in apical membrane transporters in MYO5B-knockout mice, as well as mice with tamoxifen-inducible, intestine-specific disruption of Myo5b (VilCre(ERT2);Myo5b(flox/flox) mice) or those not given tamoxifen (controls). ...After tam …
METHODS: We studied alterations in apical membrane transporters in MYO5B-knockout mice, as well as mice with tamoxifen-inducible, int …
Rab11-FIP2 interaction with MYO5B regulates movement of Rab11a-containing recycling vesicles.
Schafer JC, Baetz NW, Lapierre LA, McRae RE, Roland JT, Goldenring JR. Schafer JC, et al. Traffic. 2014 Mar;15(3):292-308. doi: 10.1111/tra.12146. Epub 2014 Jan 22. Traffic. 2014. PMID: 24372966 Free PMC article.
A tripartite association of Rab11a with both Rab11-FIP2 and MYO5B regulates recycling endosome trafficking. We sought to define the intermolecular interactions required between Rab11-FIP2 and MYO5B. ...Single mutations or the double S229P/G233E mutation failed to al …
A tripartite association of Rab11a with both Rab11-FIP2 and MYO5B regulates recycling endosome trafficking. We sought to define the i …
59 results