Results 21 to 30 of about 3,912 (211)

PKHD1 gene mutation analysis in two families of perinatal stage autosomal recessive polycystic kidney disease

Linchuang shenzangbing zazhi
Objective To analyze genetic variation in two cases of autosomal recessive polycystic kidney disease （ARPKD） and provide theoretical rationales for its early diagnosis， treatment， genetic counseling and prenatal diagnosis.
Lan Zeng, Qi-yan Wang, Yi Deng, Dan-ni Wang, Shu-yao Zhu, Jin Wang   +5 more
doaj   +2 more sources

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants [PDF]

Molecular and Cellular Pediatrics
Background Inherited kidney diseases (IKDs) are a significant cause of chronic kidney disease (CKD) and end-stage kidney disease (ESKD), especially in children.
Nesma M. Elaraby, Ammal M. Metwally, Sara M. Sayed, Neveen A. Ashaat, Mohammed Gamal, Dalia Farouk Hussen, Soha Abuelela, Abeer Ramadan, Maha M. Kobesiy, Mai M. Shaker, Howida Elgebaly, Hala G. Elnady, Mona El Gammal, Engy A. Ashaat   +13 more
doaj   +2 more sources

Cholangitis resembling Caroli’s syndrome in a patient with autosomal dominant polycystic kidney disease: Case report [PDF]

SAGE Open Medical Case Reports
Caroli’s syndrome is a rare autosomal recessive disorder characterized by segmental cystic dilation of the intrahepatic bile ducts and congenital hepatic fibrosis. It is associated with autosomal recessive polycystic kidney disease.
Maha Arkan Khudhair, Rikke Christensen, Anne Skakkebæk, Jakob Grue Graverholt, Anders Bergh Lødrup   +4 more
doaj   +2 more sources

Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants [PDF]

Kidney International, 2021
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. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin.
Kathrin Burgmaier, Leonie Violetta Brinker, Florian Erger, Bodo B. Beck, Marcus R. Benz, Carsten Bergmann, Olivia Boyer, Laure Collard, Claudia Dafinger, Marc Fila, Claudia Kowalewska, Bärbel Lange-Sperandio, Laura Massella, Antonio Mastrangelo, Djalila Mekahli, Monika Miklaszewska, Nadina Ortiz-Bruechle, Larisa Prikhodina, Bruno Ranchin, Nadejda Ranguelov, Raphael Schild, Tomáš Seeman, Lale Sever, Przemysław Sikora, Maria Szczepańska, Ana Teixeira, Julia Thumfart, Barbara Uetz, Lutz T. Weber, Elke Wühl, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max C. Liebau, Loai Eid, Klaus Arbeiter, Nathalie Godefroid, Jacques Lombet, Aurélie De Mul, Markus Feldkoetter, Jakub Zieg, Franziska Grundmann, Matthias Galiano, Bjoern Buchholz, Anja Buescher, Karsten Häffner, Oliver Groß, Ludwig Patzer, Jun Oh, Dieter Haffner, Wanja M. Bernhardt, Susanne Schaefer, Simone Wygoda, Jan Halbritter, Ute Derichs, Günter Klaus, Felix Lechner, Sabine Ponsel, Jens König, Hagen Staude, Donald Wurm, Martin Bald, Michaela Geßner, Neveen A. Soliman, Gema Ariceta, Juan David González-Rodríguez, Francisco de la Cerda Ojeda, Jérôme Harambat, Denis Morin, Claire Dossier, Guillaume Dorval, Rukshana Shroff, Stella Stabouli, Nakysa Hooman, Francesca Mencarelli, William Morello, Germana Longo, Francesco Emma, Augustina Jankauskienė, Katarzyna Taranta‐Janusz, Ilona Zagożdżon, Katarzyna Zachwieja, Małgorzata Stańczyk, Beata Bieniaś, Mieczysław Litwin, Aurelia Morawiec‐Knysak, Alberto Caldas Afonso, Oliver Dunand, Andreea Liana Răchişan, Gordana Miloševski‐Lomić, Svetlana Papizh, Rina Rus, Houweyda Jilani, Bahriye Atmış, Ali Düzova, Alper Soylu, Cengiz Candan, Salim Çalışkan, Alev Yılmaz, İbrahim Gökçe   +99 more
openalex   +9 more sources

Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD) [PDF]

Journal of Medical Genetics, 2005
Background: Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA. So far, only micromutations in the 66 exons encoding the longest open reading frame (ORF) have been described, and ...
Carsten Bergmann, F Küpper, C P Schmitt, U Vester, T J Neuhaus, J Senderek, K Zerres   +6 more
openalex   +4 more sources

Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease [PDF]

Journal of Child Science, 2021
AbstractAutosomal recessive polycystic kidney disease, described as a congenital hepatorenal fibrocystic syndrome, is a significant inherited cause of end stage renal failure in children with reported incidence of 1 in 20,000 live births. The clinical spectrum is wide.
Sajina Sathyan, Femitha Pournami, G. K. Madhavilatha, Amrit Tuteja, Anand Nandakumar, Jyothi Prabhakar, Naveen Jain   +6 more
openalex   +2 more sources

Coincidence the Autosomal Recessive Polycystic Kidney Disease With Placenta Membranacea (A Probably Genetic Relation with PKHD1 Gene) [PDF]

Zahedan Journal of Research in Medical Sciences, 2016
: Placenta membranacea is one of the most barley anomalies happens in pregnancy defined by chorionic villi (partially or completely) covered the fetus membrane. Autosomal recessive polycystic kidney disease in fetus is also a rare case with an incidence of 1: 20,000 live births resulting in a 30% death rate in neonates. In this case for the first time,
Ehsan Hosseini, Samira mis Ghavam, Mohammad Reza HafeziAhmadi   +2 more
openalex   +3 more sources

Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations [PDF]

Veterinary Pathology, 2018
A 1-month-old Purebred Spanish Horse (PSH) foal presented with progressive hepatic failure culminating in death. Hepatic lesions were consistent with congenital hepatic fibrosis (CHF). Genetic studies in the PKHD1 gene in the affected foal revealed that it was heterozygous for the 2 previously described single-nucleotide polymorphisms (SNPs) linked to
Jéssica Molín, Javier Asín, Arantza Vitoria, A. Sanz, Marina Gimeno, A. Romero, Javier Sánchez-Marco, Pedro Pinczowski, Francisco José Vázquez, C. Rodellar, Lluís Luján   +10 more
openalex   +3 more sources

Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease. [PDF]

Physiol Rep
Polycystic kidney diseases (PKD) are genetic disorders which disrupt kidney architecture and function. Autosomal recessive PKD (ARPKD) is a rare form of PKD, caused by mutations in PKHD1, and clinically more severe than the more common autosomal dominant
Russell LG, Kolatsi-Joannou M, Wilson L, Chandler JC, Tejedor NP, Stagg G, Price KL, Rowan CJ, Crompton T, Rosenblum ND, Winyard PJD, Long DA.   +11 more
europepmc   +3 more sources

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm [PDF]

Kidney International, 2004
PKHD1, the autosomal-recessive polycystic kidney disease (ARPKD) gene, encodes multiple alternatively spliced transcripts predicted to generate membrane-bound and secreted proteins. The longest open reading frame encodes polyductin (fibrocystin), a putative 4074 amino acid protein with a single transmembrane domain and an intracellular C-terminus.To ...
Luís F. Menezes, Yiqiang Cai, Yasuyuki Nagasawa, Ana Maria Gonçalves da Silva, Mary L. Watkins, Aline Maria da Silva, Stefan Somlo, Lisa M. Guay‐Woodford, Gregory G. Germino, Luiz F. Onuchic   +9 more
openalex   +3 more sources