ADTKD MUC1
Disease ID
ADTKD
Gene ID
MUC1
Updated
Feb 5, 2025
v2.2.1
v2.2.1
Disease
Name
Autosomal dominant tubulointerstitial kidney disease
Inheritance
Autosomal dominant Description
Prevalence
2.5 1,000,000
Locus
Details
Alleles
Ref. Motif
C
Pathogenic (ref.)
C
Pathogenic (gene)
C
References
Direct supporting references for info on this page.
2
Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1
Anthony J.,Bleyer, Martina,Živná, Kendrah,Kidd, Stanislav,Kmoch
GeneReviews® · 1993-01-01
genereviews:NBK1537234
Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions
Stephanie E.,Wallace, Lora JH,Bean
GeneReviews® [Internet] · 2022-10-20
genereviews:NBK5351485
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Andrew,Kirby, Andreas,Gnirke, David B,Jaffe, Veronika,Barešová, Nathalie,Pochet, Brendan,Blumenstiel, Chun,Ye, Daniel,Aird, Christine,Stevens, James T,Robinson, Moran N,Cabili, Irit,Gat-Viks, Edward,Kelliher, Riza,Daza, Matthew,DeFelice, Helena,Hůlková, Jana,Sovová, Petr,Vylet'al, Corinne,Antignac, Mitchell,Guttman, Robert E,Handsaker, Danielle,Perrin, Scott,Steelman, Snaevar,Sigurdsson, Steven J,Scheinman, Carrie,Sougnez, Kristian,Cibulskis, Melissa,Parkin, Todd,Green, Elizabeth,Rossin, Michael C,Zody, Ramnik J,Xavier, Martin R,Pollak, Seth L,Alper, Kerstin,Lindblad-Toh, Stacey,Gabriel, P Suzanne,Hart, Aviv,Regev, Chad,Nusbaum, Stanislav,Kmoch, Anthony J,Bleyer, Eric S,Lander, Mark J,Daly
Nature genetics · 2013-02-10
pmid:23396133Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)
3
Jeff,Granhøj, Dorte L,Lildballe, Katja V,Pedersen, Birgitte G,Tougaard, Martin,Sokol, Mads M,Aagaard, Annabeth H,Petersen, Tilde,Kristensen, Malene,Djursby, Henrik,Birn, Maria,Rasmussen
Clinical kidney journal · 2024-11-18
pmid:39781475Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Jessica,Kachmar, Hassan,Saei, Vincent,Morinière, Laurence,Heidet, Bertrand,Knebelmann, Olivier,Gribouval, Manon,Mautret-Godefroy, Stéphane,Burtey, Vincent,Vuiblet, Asma,Alla, Axel,Ibalanky, Olivier,Moranne, Mathilde,Nizon, Benjamin,Savenkoff, Patrick,Nitschké, Corinne,Antignac, Guillaume,Dorval
American journal of kidney diseases : the official journal of the National Kidney Foundation · 2025-01-21
pmid:39848530Unraveling
Amanda,Helms, Vincent,Chang, Stacy A,Malaker, Jennifer S,Brodbelt
Analytical chemistry · 2024-11-22
pmid:39576755Erik P,Lillehoj, Yafan,Yu, Avelino C,Verceles, Akihiro,Imamura, Hideharu,Ishida, Kurt H,Piepenbrink, Simeon E,Goldblum
iScience · 2024-08-31
pmid:39314239Analysis of Molecular Genetic Variants of Lgals4 in Esophageal Cancer: A Preliminary Report.
Surmeet,Kaur, Rajiv,Devgan, Jagdeep,Singh, Namarta,Kalia, Jatinder,Singh, Manpreet,Kaur
Biochemical genetics · 2024-04-12
pmid:38605207Structural and molecular insight into antibody recognition of dynamic neoepitopes in membrane tethered MUC1 of pancreatic cancer cells and secreted exosomes.
Hajime,Wakui, Yasuhiro,Yokoi, Chieko,Horidome, Toyoyuki,Ose, Min,Yao, Yoshikazu,Tanaka, Hiroshi,Hinou, Shin-Ichiro,Nishimura
RSC chemical biology · 2023-05-24
pmid:37547453VNtyper enables accurate alignment-free genotyping of
Hassan,Saei, Vincent,Morinière, Laurence,Heidet, Olivier,Gribouval, Said,Lebbah, Frederic,Tores, Manon,Mautret-Godefroy, Bertrand,Knebelmann, Stéphane,Burtey, Vincent,Vuiblet, Corinne,Antignac, Patrick,Nitschké, Guillaume,Dorval
iScience · 2023-06-17
pmid:37456840Hypoxia controls expression of kidney-pathogenic
Stephanie,Naas, René,Krüger, Karl Xaver,Knaup, Julia,Naas, Steffen,Grampp, Mario,Schiffer, Michael,Wiesener, Johannes,Schödel
Life science alliance · 2023-06-14
pmid:37316299Detecting tandem repeat variants in coding regions using code-adVNTR.
Jonghun,Park, Mehrdad,Bakhtiari, Bernt,Popp, Michael,Wiesener, Vineet,Bafna
iScience · 2022-07-19
pmid:35982790