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GenomicsMolecular basis for autosomal-dominant renal Fanconi syndrome caused by HNF4A
Molecular basis for autosomal-dominant renal Fanconi syndrome caused by HNF4A
PRJNA586857 | ENA
TranscriptomicsMolecular basis for autosomal-dominant renal Fanconi syndrome caused by HNF4A
A specific missense mutation in the DNA binding domain of HNF4A, R85W, causes Fanconi renotubular syndrome (FRTS). To confirm results found in Drosophila, a direct reprogramming approach was applied. Induced renal epithelial tubular cells (iRECs) were generated using transcription factors Hnf1b, Pax...
ORGANISM(S): Mus musculus 
2019-12-16 | GSE139674 | GEO
UnknownMolecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.
Not available
S-EPMC6941224 | biostudies-literature
UnknownGlycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Not available
S-EPMC6050927 | biostudies-literature
UnknownSevere renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.
Not available
S-EPMC6003143 | biostudies-literature
UnknownThe renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.
Not available
S-EPMC5657490 | biostudies-literature
UnknownFanconi syndrome with lysinuric protein intolerance.
Not available
S-EPMC4389143 | biostudies-literature
UnknownKearns-Sayre syndrome presenting with fanconi syndrome: a case report.
Not available
S-EPMC12163809 | biostudies-literature
UnknownThe HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Not available
S-EPMC3932761 | biostudies-literature
TranscriptomicsFanconi anemia proteins interact with CtBP1 and modulate the expression of the Wnt antagonist Dickkopf-1
Fanconi anemia (FA) is a genetic disorder characterized by congenital abnormalities, bone marrow failure and increased susceptibility to cancer. Of the fifteen FA proteins, Fanconi anemia group C (FANCC) is one of eight FA core complex components of the FA pathway. Unlike other FA core complex prote...
ORGANISM(S): Homo sapiens 
2013-04-05 | E-GEOD-43330 | biostudies-arrayexpress
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