WebLe portail des maladies rares et des médicaments orphelins. Diagnose van hypoplasie van schildklier (gen panel) Diagnosis of thyroid hypoplasia (gene panel) WebOct 18, 2024 · SLC26A7 is a member of the same transporter family as SLC26A4 (pendrin), an anion exchanger with affinity for iodide and chloride (among others), whose gene …
SLC26A7 Antibody (14H5) SCBT - Santa Cruz Biotechnology
WebThyroid carcinoma. Uterine Carcinosarcoma. Uterine Corpus Endometrial Carcinoma. Uveal Melanoma. SLC26A7 expression based on . Comparison: Statistical significance: Normal-vs-Primary: 1.62447832963153E-12: Pan-cancer view Methylation Survival Correlated genes ... WebDec 7, 2024 · SLC26A7 is proposed to be an anion transporter in the thyroid gland. The mutation leads to a frameshift and a premature stop codon. The predicted protein is truncated and very likely to be nonfunctional if it was expressed at all. In addition, in silico studies predict the mutation to be pathogenic. Figures References Related Details … cmake 構成ファイル
Homozygous loss-of-function mutations in SLC26A7 goitrous …
WebIn murine thyroid, Slc26a7 localizes intracellularly and to the basal membrane; given its known function as a chloride-bicarbonate transporter in other cell types, Slc26a7 may alter intracellular pH, thereby altering iodide uptake or iodide organification as we have observed in murine or human contexts, respectively. DIT, diiodothyronine; MIT ... WebIn addition to these transporters, SLC26A7, which has recently been identified as a causative gene for congenital hypothyroidism, was found to encode a novel apical iodine … WebMay 25, 2024 · The thyroid morphology caused by SLC26A7 defect was the most extensive, as four carriers showed goiter, agenesis or ectopic. The detailed information of patients with potential pathological variants were listed in Table 3. Table 3. Clinical characteristics of patients with potential pathological variants. cma lss チャージ