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1,616 results

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Page 1
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA. Gunay-Aygun M, et al. Mol Genet Metab. 2010 Feb;99(2):160-73. doi: 10.1016/j.ymgme.2009.10.010. Epub 2009 Oct 20. Mol Genet Metab. 2010. PMID: 19914852 Free PMC article.
PKHD1, the gene mutated in autosomal recessive polycystic kidney disease (ARPKD)/congenital hepatic fibrosis (CHF), is an exceptionally large and complicated gene that consists of 86 exons and has a number of alternatively spliced transcripts. I …
PKHD1, the gene mutated in autosomal recessive polycystic kidney disease (ARPKD)/congenital hepatic fibro …
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie). Bergmann C, et al. Kidney Int. 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x. Kidney Int. 2005. PMID: 15698423 Free article.
BACKGROUND: ARPKD is associated with mutations in the PKHD1 gene on chromosome 6p12. Most cases manifest peri-/neonatally with a high mortality rate in the first month of life while the clinical spectrum of surviving patients is much more variable than generally perceived. …
BACKGROUND: ARPKD is associated with mutations in the PKHD1 gene on chromosome 6p12. Most cases manifest peri-/neonatally with a high …
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Sharp AM, et al. J Med Genet. 2005 Apr;42(4):336-49. doi: 10.1136/jmg.2004.024489. J Med Genet. 2005. PMID: 15805161 Free PMC article. No abstract available.
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. ...Additionally, our data suggest that the affected region in PKHD1 …
Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically …
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Büttner R, Zerres K. Bergmann C, et al. Hum Mutat. 2004 May;23(5):453-63. doi: 10.1002/humu.20029. Hum Mutat. 2004. PMID: 15108277 Review.
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality. ...About 30 to 50% of affected individuals die in the neonatal period, while others survive into adulthood. ARPKD …
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-relate …
Cilia and polycystic kidney disease.
Ma M. Ma M. Semin Cell Dev Biol. 2021 Feb;110:139-148. doi: 10.1016/j.semcdb.2020.05.003. Epub 2020 May 28. Semin Cell Dev Biol. 2021. PMID: 32475690 Review.
Polycystic kidney disease (PKD), comprising autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD), is characterized by incessant cyst formation in the kidney …
Polycystic kidney disease (PKD), comprising autosomal dominant polycystic kidney disease (ADPKD) and a …
Pkhd1(cyli/cyli) mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease.
Yang C, Harafuji N, Caldovic L, Yu W, Boddu R, Bhattacharya S, Barseghyan H, Gordish-Dressman H, Foreman O, Bebok Z, Eicher EM, Guay-Woodford LM. Yang C, et al. J Mol Med (Berl). 2023 Sep;101(9):1141-1151. doi: 10.1007/s00109-023-02351-2. Epub 2023 Aug 16. J Mol Med (Berl). 2023. PMID: 37584738 Free PMC article.
Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes early childhood morbidity and mortality. Mutations in the polycystic kidney and hepatic disease 1 ( …
Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocy …
The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Goggolidou P, Richards T. Goggolidou P, et al. Biochim Biophys Acta Mol Basis Dis. 2022 Apr 1;1868(4):166348. doi: 10.1016/j.bbadis.2022.166348. Epub 2022 Jan 12. Biochim Biophys Acta Mol Basis Dis. 2022. PMID: 35032595 Free article. Review.
ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of cystic kidneys and liver fibrosis. ...Two genes have been shown to cause ARPKD when mutated, PKHD1, mutations in which lead to most of ARPKD cases and DZIP1L, which is associa …
ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of cystic kidneys and liver fibrosis. ...Two …
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K. Bergmann C, et al. Hum Mutat. 2005 Mar;25(3):225-31. doi: 10.1002/humu.20145. Hum Mutat. 2005. PMID: 15706593 Review.
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. While most cases manifest peri-/neonatally with a high mortality rate in the fir …
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-relate …
A human multi-lineage hepatic organoid model for liver fibrosis.
Guan Y, Enejder A, Wang M, Fang Z, Cui L, Chen SY, Wang J, Tan Y, Wu M, Chen X, Johansson PK, Osman I, Kunimoto K, Russo P, Heilshorn SC, Peltz G. Guan Y, et al. Nat Commun. 2021 Oct 22;12(1):6138. doi: 10.1038/s41467-021-26410-9. Nat Commun. 2021. PMID: 34686668 Free PMC article.
To investigate the pathogenesis of a congenital form of hepatic fibrosis, human hepatic organoids were engineered to express the most common causative mutation for Autosomal Recessive Polycystic Kidney Disease (ARPKD). Here we show that these hepatic o …
To investigate the pathogenesis of a congenital form of hepatic fibrosis, human hepatic organoids were engineered to express the most common …
1,616 results