| [Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia]. | [Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia].
Li S, Sheng Y, Wang X, Wang Y, Zhang Y, Wu C, Jiang X. | 09/26/2024 |
| Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis. | Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S, Sheng Y, Wang X, Wang Q, Wang Y, Zhang Y, Wu C, Jiang X., Free PMC Article | 07/25/2024 |
| Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4. | Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S., Free PMC Article | 10/8/2022 |
| Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias. | Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar B, Puri RD. | 10/1/2022 |
| Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2. | Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.
Sato T, Kojima T, Samura O, Kawaguchi S, Nakamura A, Nakajima M, Tanuma-Takahashi A, Nakabayashi K, Hata K, Ikegawa S, Nishimura G, Okamoto A, Yamada T. | 02/6/2021 |
| Molecular analysis revealed that patient I is heterozygous for two known pathogenic variants in SLC26A2, a splice site variant c.-26+2T > C and a missense variant c.1957T > A (p.Cys653Ser), while patient II is compound heterozygous for missense variants c.835C > T (p.Arg279Trp) and c.1535C > A (p.Thr512Lys) | Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.
Kausar M, Mäkitie RE, Toiviainen-Salo S, Ignatius J, Anees M, Mäkitie O. | 02/8/2020 |
| N-glycosylation plays three roles in the functional expression of SLC26 proteins: (1) to retain misfolded proteins in the endoplamic reticulum, (2) to stabilize the protein at the cell surface, and (3) to maintain the transport protein in a functional state. | Role of N-glycosylation in the expression of human SLC26A2 and A3 anion transport membrane glycoproteins (1).
Rapp CL, Li J, Badior KE, Williams DB, Casey JR, Reithmeier RAF. | 09/14/2019 |
| Data identified two novel mutations in SLC26A2 gene: c.824 T > C and c.1198C > T in two siblings multiple epiphyseal dysplasia 4 within a Chinese family. Both mutations were inherited from both parents, one mutation from each. | Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
Zhou T, Wang Y, Zhou H, Liao Z, Gao B, Su D, Zheng S, Xu C, Su P., Free PMC Article | 03/2/2019 |
| Two heterozygous mutations in SLC26A2 mutations occur in a three-generational family with cases of multiple epiphyseal dysplasias. | Multiple SLC26A2 mutations occurring in a three-generational family.
Barreda-Bonis AC, Barraza-García J, Parrón M, Pastor I, Heath KE, González-Casado I. | 09/22/2018 |
| Molecular analysis of human solute carrier SLC26A2, SLC26A3, and SLC26A4 anion transporter disease-causing mutations using 3-dimensional homology modeling has been presented. | Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C, Bai X, Reithmeier RAF. | 02/10/2018 |
| Results show that SLC26A2 expression is high in numerous tumor types and, provide evidence that it downregulates the TRAIL receptors, DR4 and DR5 which confers resistance to TRAIL. | A Genome-Wide Loss-of-Function Screen Identifies SLC26A2 as a Novel Mediator of TRAIL Resistance.
Dimberg LY, Towers CG, Behbakht K, Hotz TJ, Kim J, Fosmire S, Porter CC, Tan AC, Thorburn A, Ford HL., Free PMC Article | 10/21/2017 |
| slc26a2 is to be a critical otic gene whose dysfunction may induce hearing impairment | Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.
Liu F, Xia W, Hu J, Wang Y, Yang F, Sun S, Zhang J, Jiang N, Wang H, Tian W, Wang X, Ma D., Free PMC Article | 06/11/2016 |
| findings provide the first identification of autosomal dominant SLC26A2 mutations in patients with dysplastic spondylolysis, suggesting a new clinical entity in the pathogenesis of chondrodysplasia involving lumbosacral spine | Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Cai T, Yang L, Cai W, Guo S, Yu P, Li J, Hu X, Yan M, Shao Q, Jin Y, Sun ZS, Luo ZJ., Free PMC Article | 11/21/2015 |
| Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion. | Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion.
Spyroglou A, Bozoglu T, Rawal R, De Leonardis F, Sterner C, Boulkroun S, Benecke AG, Monti L, Zennaro MC, Petersen AK, Döring A, Rossi A, Bidlingmaier M, Warth R, Gieger C, Reincke M, Beuschlein F. | 09/13/2014 |
| Up-regulation of SLC26A2 is associated with colorectal cancer. | Differential expression and prognostic role of selected genes in colorectal cancer patients.
Pitule P, Vycital O, Bruha J, Novak P, Hosek P, Treska V, Hlavata I, Soucek P, Kralickova M, Liska V. | 01/11/2014 |
| A compound heterozygote SLC26A2 mutation is associated with robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia | A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.
Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. | 10/19/2013 |
| SLC13A4 and SLC26A2 were the most abundant sulfate transporter mRNAs, which localized to syncytiotrophoblast and cytotrophoblast cells, respectively. | Human placental sulfate transporter mRNA profiling from term pregnancies identifies abundant SLC13A4 in syncytiotrophoblasts and SLC26A2 in cytotrophoblasts.
Simmons DG, Rakoczy J, Jefferis J, Lourie R, McIntyre HD, Dawson PA. | 08/31/2013 |
| 73% of autosomal-recessive multiple epiphyseal dysplasia patients were either homozygous, or compound heterozygous, for SLC26A2 mutations. | Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD., Free PMC Article | 04/28/2012 |
| Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated b | Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated by extracellular Cl-.
Ohana E, Shcheynikov N, Park M, Muallem S., Free PMC Article | 04/21/2012 |
| Mutations in the SLC26A2 gene causes diastrophic dysplasia. | Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna AM, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L. | 02/18/2012 |
| New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene is reported. | New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
Czarny-Ratajczak M, Bieganski T, Rogala P, Glowacki M, Trzeciak T, Kozlowski K. | 03/19/2011 |
| Analysis suggests that, while the DTDST family of disorders contains at least seven different conditions, gene mutations appear to cause a phenotypic continuum. DTDST genotype alone is an imperfect predictor of clinical severity along this continuum. | Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Dwyer E, Hyland J, Modaff P, Pauli RM. | 03/19/2011 |
| Characterize transport of oxalate and sulfate by human SLC26A2 and mouse Slc26a2 expressed in Xenopus oocytes. | Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
Heneghan JF, Akhavein A, Salas MJ, Shmukler BE, Karniski LP, Vandorpe DH, Alper SL., Free PMC Article | 06/28/2010 |
| Diminished DTDST expression through epigenetic silencing is associated with colon cancer. | Epigenetic silencing of the sulfate transporter gene DTDST induces sialyl Lewisx expression and accelerates proliferation of colon cancer cells.
Yusa A, Miyazaki K, Kimura N, Izawa M, Kannagi R. | 06/28/2010 |
| A novel SLC26A2 mutation was found in all subjects, inserted by site-directed mutagenesis in a vector harbouring the SLC26A2 cDNA, and expressed in sulfate transport deficient Chinese hamster ovary (CHO) cells to measure sulfate uptake activity | A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
Bonafé L, Hästbacka J, de la Chapelle A, Campos-Xavier AB, Chiesa C, Forlino A, Superti-Furga A, Rossi A., Free PMC Article | 01/21/2010 |