183 related articles for article (PubMed ID: 36175384)
1. Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
van de Kamp JM; Bökenkamp A; Smith DEC; Wamelink MMC; Jansen EEW; Struys EA; Waisfisz Q; Verkleij M; Hartmann MF; Wang R; Wudy SA; Paganini C; Rossi A; Finken MJJ
Clin Genet; 2023 Jan; 103(1):45-52. PubMed ID: 36175384
[TBL] [Abstract][Full Text] [Related]
2. SLC26A1 is a major determinant of sulfate homeostasis in humans.
Pfau A; López-Cayuqueo KI; Scherer N; Wuttke M; Wernstedt A; González Fassrainer D; Smith DE; van de Kamp JM; Ziegeler K; Eckardt KU; Luft FC; Aronson PS; Köttgen A; Jentsch TJ; Knauf F
J Clin Invest; 2023 Feb; 133(3):. PubMed ID: 36719378
[TBL] [Abstract][Full Text] [Related]
3. Slc13a1 and Slc26a1 KO models reveal physiological roles of anion transporters.
Markovich D
Physiology (Bethesda); 2012 Feb; 27(1):7-14. PubMed ID: 22311966
[TBL] [Abstract][Full Text] [Related]
4. Physiological roles of mammalian sulfate transporters NaS1 and Sat1.
Markovich D
Arch Immunol Ther Exp (Warsz); 2011 Apr; 59(2):113-6. PubMed ID: 21298488
[TBL] [Abstract][Full Text] [Related]
5. Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed.
Neff MW; Beck JS; Koeman JM; Boguslawski E; Kefene L; Borgman A; Ruhe AL
PLoS One; 2012; 7(12):e51917. PubMed ID: 23300579
[TBL] [Abstract][Full Text] [Related]
6. From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.
Tise CG; Perry JA; Anforth LE; Pavlovich MA; Backman JD; Ryan KA; Lewis JP; O'Connell JR; Yerges-Armstrong LM; Shuldiner AR
G3 (Bethesda); 2016 Sep; 6(9):2909-18. PubMed ID: 27412988
[TBL] [Abstract][Full Text] [Related]
7. Sex-specific effects of serum sulfate level and
Tise CG; Anforth LE; Zhou AE; Perry JA; McArdle PF; Streeten EA; Shuldiner AR; Yerges-Armstrong LM
Mol Genet Metab Rep; 2017 Mar; 10():84-91. PubMed ID: 28154797
[TBL] [Abstract][Full Text] [Related]
8. Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
Rossi A; Bonaventure J; Delezoide AL; Superti-Furga A; Cetta G
Eur J Biochem; 1997 Sep; 248(3):741-7. PubMed ID: 9342225
[TBL] [Abstract][Full Text] [Related]
9. In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias.
Rossi A; Cetta G; Piazza R; Bonaventure J; Steinmann B; Supereti-Furga A
Pediatr Pathol Mol Med; 2003; 22(4):311-21. PubMed ID: 14692227
[TBL] [Abstract][Full Text] [Related]
10. Serum sulfate level and Slc13a1 mRNA expression remain unaltered in a mouse model of moderate vitamin D deficiency.
Atcheson RJ; Burne THJ; Dawson PA
Mol Cell Biochem; 2023 Aug; 478(8):1771-1777. PubMed ID: 36566486
[TBL] [Abstract][Full Text] [Related]
11. Na+-sulfate cotransporter SLC13A1.
Markovich D
Pflugers Arch; 2014 Jan; 466(1):131-7. PubMed ID: 24193406
[TBL] [Abstract][Full Text] [Related]
12. Physiological roles of renal anion transporters NaS1 and Sat1.
Markovich D
Am J Physiol Renal Physiol; 2011 Jun; 300(6):F1267-70. PubMed ID: 21490138
[TBL] [Abstract][Full Text] [Related]
13. Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).
Das L; Dhiman V; Van Hul W; Bhansali A; Gogate Y; Steenackers E; Mortier G; Bhadada SK
Bone Rep; 2020 Jun; 12():100245. PubMed ID: 32025536
[TBL] [Abstract][Full Text] [Related]
14. Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.
Rossi A; Kaitila I; Wilcox WR; Rimoin DL; Steinmann B; Cetta G; Superti-Furga A
Matrix Biol; 1998 Oct; 17(5):361-9. PubMed ID: 9822202
[TBL] [Abstract][Full Text] [Related]
15. Specificity and regulation of renal sulfate transporters.
Markovich D; Aronson PS
Annu Rev Physiol; 2007; 69():361-75. PubMed ID: 17002596
[TBL] [Abstract][Full Text] [Related]
16. A mild variant of Desbuquois dysplasia.
Nishimura G; Hong HS; Kawame H; Sato S; Cai G; Ozono K
Eur J Pediatr; 1999 Jun; 158(6):479-83. PubMed ID: 10378396
[TBL] [Abstract][Full Text] [Related]
17. Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO; Jacob P; Upadhyai P; Taşkıran ZE; Guleria VS; Karaosmanoglu B; Imren G; Gocmen R; Bhavani GS; Kausthubham N; Shah H; Utine GE; Boduroglu K; Girisha KM
Hum Mutat; 2022 Dec; 43(12):2116-2129. PubMed ID: 36150098
[TBL] [Abstract][Full Text] [Related]
18. A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.
Elhossini RM; Ahmed HA; Otaify G; Ghorab RM; Amr K; Aglan M
Am J Med Genet A; 2022 Oct; 188(10):2861-2868. PubMed ID: 36097642
[TBL] [Abstract][Full Text] [Related]
19. In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation.
Pecora F; Gualeni B; Forlino A; Superti-Furga A; Tenni R; Cetta G; Rossi A
Biochem J; 2006 Sep; 398(3):509-14. PubMed ID: 16719839
[TBL] [Abstract][Full Text] [Related]
20. Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
Meyer R; Schacht S; Buschmann L; Begemann M; Kraft F; Haag N; Kochs A; Schulze A; Kurth I; Elbracht M
Bone; 2019 Oct; 127():446-451. PubMed ID: 31325655
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
