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Page 1
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K. Nozu K, et al. Clin Exp Nephrol. 2019 Feb;23(2):158-168. doi: 10.1007/s10157-018-1629-4. Epub 2018 Aug 20. Clin Exp Nephrol. 2019. PMID: 30128941 Free PMC article. Review.
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnormalities. ...Diagnosis is conventionally made pathologically, but recent advances in comprehensive genetic analysis have enabled geneti …
Alport syndrome (AS) is a progressive hereditary renal disease that is characterized by sensorineural hearing loss and ocular abnorma …
Personalized Intervention in Monogenic Stone Formers.
Policastro LJ, Saggi SJ, Goldfarb DS, Weiss JP. Policastro LJ, et al. J Urol. 2018 Mar;199(3):623-632. doi: 10.1016/j.juro.2017.09.143. Epub 2017 Oct 20. J Urol. 2018. PMID: 29061541 Free PMC article. Review.
PURPOSE: Treatment of a first-time renal stone consists of acute management followed by medical efforts to prevent stone recurrence. ...Recent evidence has suggested that single mutations could be responsible for a larger proportion of renal stones than previously t …
PURPOSE: Treatment of a first-time renal stone consists of acute management followed by medical efforts to prevent stone recurrence. …
Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity.
Sharma D, Ben Yakov G, Kapuria D, Viana Rodriguez G, Gewirtz M, Haddad J, Kleiner DE, Koh C, Bergerson JRE, Freeman AF, Heller T. Sharma D, et al. Hepatology. 2022 Dec;76(6):1845-1861. doi: 10.1002/hep.32539. Epub 2022 May 12. Hepatology. 2022. PMID: 35466407 Review.
Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune system that affect about 500,000 people in the United States. ...A large spectrum of hepatobiliary diseases now present in those with immunodeficiency diseases, leading …
Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune system that affect about 500,000 people in …
Molecular diagnosis of autosomal dominant polycystic kidney disease.
Song X, Haghighi A, Iliuta IA, Pei Y. Song X, et al. Expert Rev Mol Diagn. 2017 Oct;17(10):885-895. doi: 10.1080/14737159.2017.1358088. Epub 2017 Aug 13. Expert Rev Mol Diagn. 2017. PMID: 28724316 Review.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease that accounts for 5-10% of end-stage renal disease in developed countries. ...Protocol using locus-specific long-range and nested PCR has enabled compre …
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease that accounts for 5-10 …
Pathology of Birt-Hogg-Dube syndrome: A special reference of pulmonary manifestations in a Japanese population with a comprehensive analysis and review.
Furuya M, Nakatani Y. Furuya M, et al. Pathol Int. 2019 Jan;69(1):1-12. doi: 10.1111/pin.12752. Epub 2019 Jan 11. Pathol Int. 2019. PMID: 30632664 Review.
Birt-Hogg-Dube (BHD) syndrome is a rare genetic disorder characterized by cutaneous fibrofolliculomas, pulmonary cysts and renal cell carcinomas. Affected individuals inherit germline mutations in the folliculin gene (FLCN). ...Intraparenchymal unruptured cysts tend …
Birt-Hogg-Dube (BHD) syndrome is a rare genetic disorder characterized by cutaneous fibrofolliculomas, pulmonary cysts and renal cell …
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
Additionally, we identified four children with Pierre Robin sequence, four individuals who had increased nuchal translucency/cystic hygroma prenatally, and two fetuses with severe renal anomalies leading to renal failure. We also report an individual in which a path …
Additionally, we identified four children with Pierre Robin sequence, four individuals who had increased nuchal translucency/cystic hygroma …
Primary hyperoxaluria type 1: practical and ethical issues.
Cochat P, Groothoff J. Cochat P, et al. Pediatr Nephrol. 2013 Dec;28(12):2273-81. doi: 10.1007/s00467-013-2444-5. Epub 2013 Mar 14. Pediatr Nephrol. 2013. PMID: 23494551 Review.
Primary hyperoxaluria type 1 (PH1) is a rare inborn error of glyoxylate metabolism of autosomal recessive inheritance, leading to progressive systemic oxalate storage (named 'oxalosis') with a high rate of morbidity and mortality, as well as an unacceptable quality of life …
Primary hyperoxaluria type 1 (PH1) is a rare inborn error of glyoxylate metabolism of autosomal recessive inheritance, leading to pro …
Genetics of kidney disease.
Bowden DW. Bowden DW. Kidney Int Suppl. 2003 Feb;(83):S8-12. doi: 10.1046/j.1523-1755.63.s83.3.x. Kidney Int Suppl. 2003. PMID: 12864867 Free article. Review.
In contrast to the focused analysis of candidate genes, the genome scan approach employs a comprehensive evaluation of inheritance throughout the genome. The great potential advantage of the genome scan is the ability to identify chromosomal regions harboring novel, …
In contrast to the focused analysis of candidate genes, the genome scan approach employs a comprehensive evaluation of inheritance …
A case report and literature study on Alport syndrome featuring nephrotic syndrome as its primary manifestation.
Deng Z, Zhou Q, Zhou TG. Deng Z, et al. Transpl Immunol. 2023 Dec;81:101941. doi: 10.1016/j.trim.2023.101941. Epub 2023 Oct 20. Transpl Immunol. 2023. PMID: 37866673 Free article. Review.
BACKGROUND: Historically, due to the lack of distinct clinical symptoms, Alport syndrome, a hereditary kidney disease prevalent in children and a leading cause of kidney failure, has often been misdiagnosed as other kidney conditions. ...Consequently, it emph …
BACKGROUND: Historically, due to the lack of distinct clinical symptoms, Alport syndrome, a hereditary kidney disease prevalent in ch …
British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.
Rowczenio DM, Youngstein T, Trojer H, Omoyinmi E, Baginska A, Brogan P, Papadopoulou C, Rezk T, Hawkins PN, Lachmann HJ. Rowczenio DM, et al. Rheumatology (Oxford). 2020 Mar 1;59(3):554-558. doi: 10.1093/rheumatology/kez334. Rheumatology (Oxford). 2020. PMID: 31384939 Review.
OBJECTIVES: Hereditary systemic autoinflammatory diseases are rare genetic disorders, which if untreated, can be complicated by AA amyloidosis leading to renal failure and premature death. Our objective was to find a genetic cause in a British family with a dominant …
OBJECTIVES: Hereditary systemic autoinflammatory diseases are rare genetic disorders, which if untreated, can be complicated by AA am …
11 results