Results 21 to 30 of about 3,398 (180)

Mosaic PKHD1 in Polycystic Kidneys Caused Aberrant Protein Expression in the Mitochondria and Lysosomes [PDF]

Frontiers in Medicine, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a severe renal cystic disease caused mainly by the polycystic kidney and hepatic disease 1 (PKHD1).
Chengxian Xu, Chenxi Yang, Qing Ye, Jie Xu, Lingxiao Tong, Yuchen Zhang, Huijun Shen, Zhihong Lu, Jingjing Wang, Enyin Lai, Jianhua Mao, Jianhua Mao, Pingping Jiang, Pingping Jiang, Pingping Jiang   +14 more
doaj   +3 more sources

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports

Molecular Genetics & Genomic Medicine, 2022
Background Caroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age of onset and clinical manifestations.
Carola Giacobbe, Fabiola Di Dato, Daniela Palma, Michele Amitrano, Raffaele Iorio, Giuliana Fortunato   +5 more
doaj   +4 more sources

Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1

Frontiers in Genetics
BackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged ...
Xinrong Zhang, Xinrong Zhang, Xinrong Zhang, Jiebin Wu, Jiebin Wu, Jianteng Zhou, Jie Liang, Jie Liang, Jie Liang, Yu Han, Yu Han, Yu Han, Yunmeng Qi, Yunmeng Qi, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Zuobin Zhu, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai, Jingfang Zhai   +22 more
doaj   +3 more sources

Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report [PDF]

Diagnostic Pathology, 2017
Background Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt.
Xiao-xiao Mi, Xiao-guang Li, Zi-rong Wang, Ling Lin, Chun-hai Xu, Jun-ping Shi   +5 more
doaj   +3 more sources

A Rare PKHD1 Frameshift Variant Identified in a Prenatally Diagnosed ARPKD Case From a Consanguineous Jordanian Family. [PDF]

Case Rep Obstet Gynecol
Introduction Polycystic kidney disease (PKD) is a condition that encompasses the development of multiple benign cysts in the kidneys and other organs. Hereditary PKD can be classified as autosomal dominant polycystic kidney disease (ADPKD) or autosomal recessive polycystic disease (ARPKD).
Al-Kuran O, Albadaineh R, Almallah A, Al-Atrash D, Dahbour D, Al-Mehaisen L.   +5 more
europepmc   +2 more sources

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader <i>PKHD1</i>-Associated Disease Spectrum. [PDF]

Genes (Basel)
Background/Objectives: Autosomal recessive polycystic kidney disease (ARPKD) is a severe ciliopathy caused by biallelic pathogenic variants in PKHD1, characterized by variable renal and hepatobiliary involvement.
Lapunzina-Soler P, Shabaka A, Peces R, Alonso Á, Cuesta E, Mena R, Espinosa-Román L, Melgosa M, Fernández G, Muñoz-GᵃPorrero Y, Tenorio-Castaño J, Lapunzina P, Nevado J.   +12 more
europepmc   +2 more sources

AVTOSOMNO RECESIVNA POLICISTIČNA BOLEZEN LEDVIC

Slovenska pediatrija, 2022
Avtosomno recesivna policistična bolezen ledvic je genetska bolezen, ki jo uvrščamo v skupino ciliopatij. Vzrok je mutacija v genu PKHD1, ki kodira membransko beljakovino fibrocistin ali poliduktin, pomembno za normalno delovanje cilij.
Anja Fon Gabršček, Rina Rus
doaj   +1 more source

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Slovenska pediatrija, 2022
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin.
Anja Fon Gabršček, Rina Rus
doaj   +1 more source

Germline PKHD1 mutations are protective against colorectal cancer [PDF]

Human Genetics, 2011
The autosomal recessive polycystic kidney disease (ARPKD) gene, PKHD1, has been implicated in the genesis or growth of colorectal adenocarcinoma, as a high level of somatic mutations was found in colorectal tumor tissue. To determine whether carriers of a single PKHD1 mutation are at increased risk of colorectal carcinoma, we assessed the prevalence of
Christopher J, Ward, Yanhong, Wu, Ruth A, Johnson, John R, Woollard, Eric J, Bergstralh, Mine S, Cicek, Jason, Bakeberg, Sandro, Rossetti, Christina M, Heyer, Gloria M, Petersen, Noralene M, Lindor, Stephen N, Thibodeau, Peter C, Harris, Vicente E, Torres, Marie C, Hogan, Lisa A, Boardman   +15 more
openaire   +2 more sources

Improved Structure and Function in Autosomal Recessive Polycystic Rat Kidneys with Renal Tubular Cell Therapy. [PDF]

PLoS ONE, 2015
Autosomal recessive polycystic kidney disease is a truly catastrophic monogenetic disease, causing death and end stage renal disease in neonates and children.
K J Kelly, Jizhong Zhang, Ling Han, Malgorzata Kamocka, Caroline Miller, Vincent H Gattone, Jesus H Dominguez   +6 more
doaj   +1 more source