دورية أكاديمية
أعرض في EDS

Single-Cell Gene Expression Analysis in Patients with Medullary Sponge Kidney and a Retrospective Study.

التفاصيل البيبلوغرافية
العنوان: Single-Cell Gene Expression Analysis in Patients with Medullary Sponge Kidney and a Retrospective Study.
المؤلفون: Li M; Division of Urological Surgery, Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China., Xu DM; Division of Urological Surgery, Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China., Lin SB; Division of Urological Surgery, Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China., Yang ZL; Division of Urological Surgery, Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China., Xu TY; Division of Urological Surgery, Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China., Yang JH; Division of Urological Surgery, Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China., Yin J; Division of Hematology, Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China.; Department of Clinical Laboratory Medicine, Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China.
المصدر: BioMed research international [Biomed Res Int] 2022 Nov 11; Vol. 2022, pp. 7688947. Date of Electronic Publication: 2022 Nov 11 (Print Publication: 2022).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Hindawi Pub. Co Country of Publication: United States NLM ID: 101600173 Publication Model: eCollection Cited Medium: Internet ISSN: 2314-6141 (Electronic) NLM ISO Abbreviation: Biomed Res Int Subsets: MEDLINE
أسماء مطبوعة: Original Publication: New York, NY : Hindawi Pub. Co.
مواضيع طبية MeSH: Medullary Sponge Kidney*/complications , Medullary Sponge Kidney*/genetics , Medullary Sponge Kidney*/metabolism , Kidney Calculi* , Vacuolar Proton-Translocating ATPases*/genetics , Vacuolar Proton-Translocating ATPases*/metabolism, Humans ; Male ; Female ; Adult ; Middle Aged ; Retrospective Studies ; Glial Cell Line-Derived Neurotrophic Factor/metabolism ; Gene Expression
مستخلص: Objective: To establish better diagnosis thinking and provide advanced understanding of MSK, the CT imaging features, clinical characteristics, and the expression of suspected genes in the kidney spatiotemporal immune zonation and fetal renal development were investigated.
Methods: 17 patients with MSK hospitalized in our hospital were selected as our research subjects. Human Phenotype Ontology, MalaCards: The Human Disease Database, GeneCards: The Human Gene Database, Human Protein Atlas, and Single Cell Expression Atlas were used to analyze this disease.
Results: In our 17 patients, the incidence of MSK tended to be the same in male and female, and the onset age of MSK was probably 31-50 years old. The top one related disease of MSK was nephrocalcinosis and the most frequent phenotype related to MSK was nephrolithiasis. In addition, the expression of HNF1B, CLCN5, GDNF, ATP6V0A4, ATP6V1B1, LAMA2, RET, ACAN, and ABCC8 has been implicated in both human kidney immune zonation and fetal kidney development.
Conclusions: HNF1B, CLCN5, GDNF, ATP6V0A4, ATP6V1B1, LAMA2, RET, ACAN, and ABCC8 could be independent indicators for the diagnosis and preventive intervention of MSK patients, and abnormal kidney development due to mutations in key genes was the underlying cause of MSK.
Competing Interests: The authors declare that they have no competing interests.
(Copyright © 2022 Ming Li et al.)
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المشرفين على المادة: 0 (Glial Cell Line-Derived Neurotrophic Factor)
0 (ATP6V1B1 protein, human)
EC 3.6.1.- (Vacuolar Proton-Translocating ATPases)
تواريخ الأحداث: Date Created: 20221121 Date Completed: 20221122 Latest Revision: 20221122
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC9674422
DOI: 10.1155/2022/7688947
PMID: 36408280
قاعدة البيانات: MEDLINE
الوصف
تدمد:2314-6141
DOI:10.1155/2022/7688947