scholarly journals Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium–glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene

2019 ◽  
Vol 11 (3) ◽  
pp. 573-577 ◽  
Author(s):  
Kentaro Sada ◽  
Shuji Hidaka ◽  
Nao Imaishi ◽  
Kohei Shibata ◽  
Rumi Katashima ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Solute Carrier Family ◽  
Sodium Glucose Cotransporter ◽  
Solute Carrier ◽  
Familial Renal Glucosuria

Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families

2021 ◽  
pp. bjophthalmol-2020-318204
Author(s):  
Zohra Chibani ◽  
Imen Zone Abid ◽  
Peter Söderkvist ◽  
Jamel Feki ◽  
Mounira Hmani Aifa
Keyword(s):  
Autosomal Recessive ◽  
Corneal Transplantation ◽  
Gene Mutations ◽  
In Silico Analysis ◽  
Corneal Dystrophy ◽  
Solute Carrier Family ◽  
Transporter Protein ◽  
Bicarbonate Transporter ◽  
Corneal Clouding ◽  
Solute Carrier

BackgroundAutosomal recessive congenital hereditary corneal dystrophy (CHED) is a rare isolated developmental anomaly of the eye characterised by diffuse bilateral corneal clouding that may lead to visual impairment requiring corneal transplantation. CHED is known to be caused by mutations in the solute carrier family 4 member 11 (SLC4A11) gene which encodes a membrane transporter protein (sodium bicarbonate transporter-like solute carrier family 4 member 11).MethodsTo identify SLC4A11 gene mutations associated with CHED (OMIM: #217700), genomic DNA was extracted from whole blood and sequenced for all exons and intron-exon boundaries in two large Tunisian families.ResultsA novel deletion SLC4A11 mutation (p. Leu479del; c.1434_1436del) is responsible for CHED in both analysed families. This non-frameshift mutation was found in a homozygous state in affected members and heterozygous in non-affected members. In silico analysis largely support the pathogenicity of this alteration that may leads to stromal oedema by disrupting the osmolarity balance. Being localised to a region of alpha-helical secondary structure, Leu479 deletion may induce protein-compromising structural rearrangements.ConclusionTo the best of our knowledge, this is the first clinical and genetic study exploring CHED in Tunisia. The present work also expands the list of pathogenic genotypes in SLC4A11 gene and its associated clinical diagnosis giving more insights into genotype–phenotype correlations.

scholarly journals Slc7a11 Modulated by POU2F1 is Involved in Pigmentation in Rabbit

2019 ◽  
Vol 20 (10) ◽  
pp. 2493 ◽  
Author(s):  
Yang Chen ◽  
Shuaishuai Hu ◽  
Lin Mu ◽  
Bohao Zhao ◽  
Manman Wang ◽  
...  
Keyword(s):  
Skin Color ◽  
Site Directed Mutagenesis ◽  
Molecular Regulation ◽  
Luciferase Reporter ◽  
Directed Mutagenesis ◽  
Regulation Mechanism ◽  
Solute Carrier Family ◽  
Depth Analysis ◽  
Solute Carrier ◽  
Fur Color

Solute carrier family 7 member 11 (Slc7a11) is a cystine/glutamate xCT transporter that controls the production of pheomelanin pigment to change fur and skin color in animals. Previous studies have found that skin expression levels of Slc7a11 varied significantly with fur color in Rex rabbits. However, the molecular regulation mechanism of Slc7a11 in pigmentation is unknown. Here, rabbit melanocytes were first isolated and identified. The distribution and expression pattern of Slc7a11 was confirmed in skin from rabbits with different fur colors. Slc7a11 affected the expression of pigmentation related genes and thus affected melanogenesis. Meanwhile, Slc7a11 decreased melanocyte apoptosis, but inhibition of Slc7a11 enhanced apoptosis. Furthermore, the POU2F1 protein was found to bind to the −713 to −703 bp region of Slc7a11 promoter to inhibit its activity in a dual-luciferase reporter and site-directed mutagenesis assay. This study reveals the function of the Slc7a11 in melanogenesis and provides in-depth analysis of the mechanism of fur pigmentation.

scholarly journals The solute carrier family 10 (SLC10): Beyond bile acid transport

2013 ◽  
Vol 34 (2-3) ◽  
pp. 252-269 ◽  
Author(s):  
Tatiana Claro da Silva ◽  
James E. Polli ◽  
Peter W. Swaan
Keyword(s):  
Bile Acid ◽  
Solute Carrier Family ◽  
Acid Transport ◽  
Bile Acid Transport ◽  
Solute Carrier

scholarly journals A Nonsense Polymorphism (Y319X) of the Solute Carrier Family 6 Member 18 (SLC6A18) Gene is Not Associated with Hypertension and Blood Pressure in Japanese

2006 ◽  
Vol 208 (1) ◽  
pp. 25-31 ◽  
Author(s):  
Bita Eslami ◽  
Masato Kinboshi ◽  
Sumiko Inoue ◽  
Kouji Harada ◽  
Kayoko Inoue ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Solute Carrier Family ◽  
Solute Carrier

scholarly journals Solute carrier family SLC41: what do we really know about it?

2013 ◽  
Vol 2 (6) ◽  
pp. 227-239 ◽  
Author(s):  
Andrea Fleig ◽  
Monika Schweigel-Röntgen ◽  
Martin Kolisek
Keyword(s):  
Solute Carrier Family ◽  
Solute Carrier

Solute carrier family 16 member 5 downregulation and its methylation might serve as a prognostic indicator of prostate cancer

IUBMB Life ◽  
2021 ◽  
Author(s):  
Xiangui Meng ◽  
Hongwei Yuan ◽  
Weiquan Li ◽  
Zhiyong Xiong ◽  
Wei Dong ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Prognostic Indicator ◽  
Solute Carrier Family ◽  
Solute Carrier
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