Results 111 to 120 of about 23,951 (234)

Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations

Medicine, 2020
Autosomal recessive polycystic kidney disease (ARPKD) is the most common inherited childhood-onset renal disease, with underlying ciliopathy, and varies widely in clinical severity.
Jiwon Jung, G. Seo, Y. Kim, Y. Han, J. K. Park, Gu-Hwan Kim, Joo Hoon Lee, Y. S. Park, B. Lee, E. Kim, P. Lee, B. Lee   +11 more
semanticscholar   +1 more source

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 [PDF]

, 1994
Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently results in renal fallure due to progressive cyst development. The major locus, PKD1, maps to 16p13.3.
Breuning, M.H. (Martijn), Brook-Carter, P.T. (Phillip), Buckle, P. (Peter), Cabral, P. (Pedro), Cordeiro, I. (Isabel), Dauwerse, H.G. (Hans), Eussen, H.J.F.M.M. (Bert), Gamble, V. (Vicki), Halley, D.J.J. (Dicky), Harris, P.C. (Peter), Hesseling-Janssen, A.L.W. (Arjenne), Higgs, D. (Douglas), Hughes, J. (Jim), Janssen, L.A.J. (Bart), Kearney, P. (Peter), Lindhout, D. (Dick), MacCarthy, A.B. (Angela), Maheshwar, M.M. (Magitha), Nellist, M.D. (Mark), Ouweland, A.M.W. (Ans) van den, Peral, B. (Belén), Peters, D. (Dorien), Ratcliffe, C., Roelfsema, J.H. (Jeroen), Sampson, J. (Julian), Santos, H. (Heloisa), Saris, J.J. (Jasper), Sloane-Stanley, J. (Jackie), Spruit, L. (Lia), Thomas, S. (Siep), Verhoef, S., Ward, C.J. (Christopher)   +31 more
core   +1 more source

Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report

Egyptian Journal of Medical Human Genetics
Background Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6.
Tina Zeraati, Mohammad Reza Abbaszadegan, Anoush Azarfar, Ehsan Ghayoor Karimiani, Malihe Lotfi, Abbas Ali Zeraati   +5 more
doaj   +1 more source

Polycystic kidney disease in a Persian cat [PDF]

, 2015
A 6-year-old intact Persian cat was presented for the primary complaint of inappetence and weight loss. Irregular surface of kidneys was palpated during physical examination. Abdominal radiograph findings were indicative of renomegaly.
Khor, Kuan Hua, Lau, Seng Fong, Phoon, Melissa Hoi Ee, Saw, Ming Hooi   +3 more
core  

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes [PDF]

, 2017
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to ...
Aral, B, Argente, J, Attie-Bitach, T, Baumann, C, Birnbaum, D, Blacque, OE, Bongers, E, Bruel, A-L, Burglen, L, Chevrier, V, Cormier-Daire, V, David, A, Deleuze, J-F, Desguerres, I, Dieux, A, Doray, B, Doummar, D, Duffourd, Y, Eguether, T, Faivre, L, Fargeot-Espaliat, A, Franco, B, Gaillard, D, Gigot, N, Gilbert-Dussardier, B, Giles, RH, Goldenberg, A, Goldstein, JS, Herranz-Pérez, V, Huynen, MA, Jego, L, Johnson, CA, Leroux, MR, Loget, P, Lopez, E, Morleo, M, Mégarbané, A, Nachury, MV, Panigrahi, I, Pasquier, L, Pazour, GJ, Phadke, SR, Pierquin, G, Reversade, B, Rivière, J-B, Rosnet, O, Saunier, S, St-Onge, J, Steichen-Gersdorf, E, Thauvin-Robinet, C, Thevenon, J, Wallingford, JB   +51 more
core   +3 more sources

Autosomal-dominante polyzystische Nierenerkrankung: Neue therapeutische Ansätze [PDF]

, 2018
Zusammenfassung: Die autosomal-dominante polyzystische Nierenerkrankung ("autosomal dominant polycystic kidney disease", ADPKD) ist die häufigste genetische Nierenerkrankung, sie betrifft weltweit etwa 6Mio. Menschen.
Poster, D., Serra, A.L., Wüthrich, R.P.
core  

Monogenic forms of hypertension [PDF]

, 2018
Arterial hypertension in childhood is less frequent as compared to adulthood but is more likely to be secondary to an underlying disorder. After ruling out more obvious causes, some patients still present with strongly suspected secondary hypertension of
Bianchetti, Mario, Mohaupt, Markus, Simonetti, Giacomo   +2 more
core   +1 more source

End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases

International Journal of Nephrology, 2017
Globally, end-stage kidney disease (ESKD) is a huge burden on health care systems. The aims of this study were to perform a comprehensive epidemiological and etiological report of ESKD patients commencing RRT in Oman with an emphasis on genetic causes ...
Intisar Al Alawi, Issa Al Salmi, Adhra Al Mawali, Yacoub Al Maimani, John A. Sayer   +4 more
doaj   +1 more source

Unilateral multicystic dysplastic kidney complicated with urinary tract infection by E. coli in a premature newborn [PDF]

Romanian Journal of Pediatrics
Autosomal recessive polycystic kidney disease is a renal development anomaly characterized by cystic transformation in renal parenchyma. ARPKD is more common in children.
Gabriela-Maria Chifa, Laura-Mihaela Suciu, Cristina Oana Marginean   +2 more
doaj   +1 more source

MicroRNA15a modulates expression of the cell-cycle regulator Cdc25A and affects hepatic cystogenesis in a rat model of polycystic kidney disease [PDF]

, 2008
Hyperproliferation of bile duct epithelial cells due to cell-cycle dysregulation is a key feature of cystogenesis in polycystic liver diseases (PCLDs). Recent evidence suggests a regulatory role for microRNAs (miRNAs) in a variety of biological processes,
Banales, J.M. (Jesús M.), LaRusso, N.F. (Nicholas F.), Lee, S.O. (Seung-Ok), Masyuk, A.I. (Anatoly I.), Masyuk, T.V. (Tatyana V.), Splinter, P.L. (Patrick L.), Stroope, A. (Angela)   +6 more
core