146 related articles for article (PubMed ID: 38012394)
1. Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Utsuno Y; Hamada K; Hamanaka K; Miyoshi K; Tsuchimoto K; Sunada S; Itai T; Sakamoto M; Tsuchida N; Uchiyama Y; Koshimizu E; Fujita A; Miyatake S; Misawa K; Mizuguchi T; Kato Y; Saito K; Ogata K; Matsumoto N
J Hum Genet; 2024 Feb; 69(2):69-77. PubMed ID: 38012394
[TBL] [Abstract][Full Text] [Related]
2. Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Holling T; Nampoothiri S; Tarhan B; Schneeberger PE; Vinayan KP; Yesodharan D; Roy AG; Radhakrishnan P; Alawi M; Rhodes L; Girisha KM; Kang PB; Kutsche K
Eur J Hum Genet; 2022 Apr; 30(4):439-449. PubMed ID: 35013551
[TBL] [Abstract][Full Text] [Related]
3. A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Montomoli M; Vetro A; Tubili F; Donati MA; Daniotti M; Pochiero F; Rivieri F; Girlando S; Guerrini R
Eur J Med Genet; 2023 Aug; 66(8):104808. PubMed ID: 37391029
[TBL] [Abstract][Full Text] [Related]
4. A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.
Hauth I; Waterham HR; Wanders RJA; van der Crabben SN; van Karnebeek CDM
Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35217562
[TBL] [Abstract][Full Text] [Related]
5. Major involvement of Na(+) -dependent multivitamin transporter (SLC5A6/SMVT) in uptake of biotin and pantothenic acid by human brain capillary endothelial cells.
Uchida Y; Ito K; Ohtsuki S; Kubo Y; Suzuki T; Terasaki T
J Neurochem; 2015 Jul; 134(1):97-112. PubMed ID: 25809983
[TBL] [Abstract][Full Text] [Related]
6. Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
Byrne AB; Arts P; Polyak SW; Feng J; Schreiber AW; Kassahn KS; Hahn CN; Mordaunt DA; Fletcher JM; Lipsett J; Bratkovic D; Booker GW; Smith NJ; Scott HS
NPJ Genom Med; 2019; 4():28. PubMed ID: 31754459
[TBL] [Abstract][Full Text] [Related]
7. Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.
Riley LG; Sabui S; Said HM; Niaz A; Girisha KM; Radhakrishnan P; Nampoothiri S; Yesodharan D; Kilo T; Smith J; Wong RSH; Menezes MP; Gupta S; Cooper ST; Balasubramaniam S
Eur J Hum Genet; 2024 May; ():. PubMed ID: 38816490
[TBL] [Abstract][Full Text] [Related]
8. A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature review.
Van Vyve FX; Mercier N; Papadopoulos J; Heijmans C; Dessy H; Monestier O; Dewulf JP; Roland D
Mol Genet Genomic Med; 2024 Feb; 12(2):e2388. PubMed ID: 38407570
[TBL] [Abstract][Full Text] [Related]
9. Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.
Subramanian VS; Constantinescu AR; Benke PJ; Said HM
Hum Genet; 2017 Feb; 136(2):253-261. PubMed ID: 27904971
[TBL] [Abstract][Full Text] [Related]
10. Chronic alcohol exposure inhibits biotin uptake by pancreatic acinar cells: possible involvement of epigenetic mechanisms.
Srinivasan P; Kapadia R; Biswas A; Said HM
Am J Physiol Gastrointest Liver Physiol; 2014 Nov; 307(9):G941-9. PubMed ID: 25214397
[TBL] [Abstract][Full Text] [Related]
11. Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment.
Hsieh CH; Lee J; Sung HH; Huang YF; Ding YS; Li CY; Yen CL; Hsu CK; Yu CK; Hsieh HY; Hughes MW; Chen PC; Shieh CC
Clin Immunol; 2023 Dec; 257():109855. PubMed ID: 38036278
[TBL] [Abstract][Full Text] [Related]
12. Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects.
Sabui S; Kapadia R; Ghosal A; Schneider M; Lambrecht NWG; Said HM
Am J Physiol Cell Physiol; 2018 Jul; 315(1):C73-C79. PubMed ID: 29669219
[TBL] [Abstract][Full Text] [Related]
13. Tamoxifen-induced, intestinal-specific deletion of
Sabui S; Skupsky J; Kapadia R; Cogburn K; Lambrecht NW; Agrawal A; Said HM
Am J Physiol Gastrointest Liver Physiol; 2019 Oct; 317(4):G518-G530. PubMed ID: 31369292
[TBL] [Abstract][Full Text] [Related]
14. Conditional knockout of the Slc5a6 gene in mouse intestine impairs biotin absorption.
Ghosal A; Lambrecht N; Subramanya SB; Kapadia R; Said HM
Am J Physiol Gastrointest Liver Physiol; 2013 Jan; 304(1):G64-71. PubMed ID: 23104561
[TBL] [Abstract][Full Text] [Related]
15. Surprising substrate versatility in SLC5A6: Na+-coupled I- transport by the human Na+/multivitamin transporter (hSMVT).
de Carvalho FD; Quick M
J Biol Chem; 2011 Jan; 286(1):131-7. PubMed ID: 20980265
[TBL] [Abstract][Full Text] [Related]
16. Chronic alcohol exposure negatively impacts the physiological and molecular parameters of the renal biotin reabsorption process.
Subramanian VS; Subramanya SB; Said HM
Am J Physiol Renal Physiol; 2011 Mar; 300(3):F611-7. PubMed ID: 21209005
[TBL] [Abstract][Full Text] [Related]
17. Biotin uptake by T47D breast cancer cells: functional and molecular evidence of sodium-dependent multivitamin transporter (SMVT).
Vadlapudi AD; Vadlapatla RK; Pal D; Mitra AK
Int J Pharm; 2013 Jan; 441(1-2):535-43. PubMed ID: 23142496
[TBL] [Abstract][Full Text] [Related]
18. Inhibition of intestinal biotin absorption by chronic alcohol feeding: cellular and molecular mechanisms.
Subramanya SB; Subramanian VS; Kumar JS; Hoiness R; Said HM
Am J Physiol Gastrointest Liver Physiol; 2011 Mar; 300(3):G494-501. PubMed ID: 21148397
[TBL] [Abstract][Full Text] [Related]
19. Effect of chronic alcohol exposure on gut vitamin B7 uptake: involvement of epigenetic mechanisms and effect of alcohol metabolites.
Ramamoorthy K; Sabui S; Srinivasan P; Al-Juburi S; Pham Q; Chu BD; Simoes RD; Fleckenstein JM; Said HM
Am J Physiol Gastrointest Liver Physiol; 2021 Aug; 321(2):G123-G133. PubMed ID: 34077272
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
