Results 101 to 110 of about 2,524,364 (180)

The role of next generation sequencing in the differential diagnosis of caroli’s syndrome

Balkan Journal of Medical Genetics, 2018
We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis.
Smolović B, Muhović D, Hodžić A, Bergant G, Peterlin B   +4 more
doaj   +1 more source

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios. [PDF]

Clin Case Rep, 2023
Sakyu T, Stover SR, Wang Y, Ward P, Gandhi M, Braun MC, Van den Veyver IB, Bi W.   +7 more
europepmc   +1 more source

A 1-Mb BAC/PAC-Based Physical Map of the Autosomal Recessive Polycystic Kidney Disease Gene (PKHD1) Region on Chromosome 6

Genomics, 1999
The PKHD1 (polycystic kidney and hepatic disease 1) gene responsible for autosomal recessive polycystic kidney disease has been mapped to 6p21.1-p12 to an approximately 1-cM interval flanked by the markers D6S1714/D6S243 and D6S1024. We have developed a sequence-ready BAC/PAC-based contig map of this region as the next step for the positional cloning ...
J H, Park, M P, Dixit, L F, Onuchic, G, Wu, A N, Goncharuk, S, Kneitz, L B, Santarina, T, Hayashi, E D, Avner, L, Guay-Woodford, K, Zerres, G G, Germino, S, Somlo   +12 more
openaire   +2 more sources

MyGene2 automated match report: PKHD1

, 2016
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect ...
The MyGene2 team (3237057)
core   +1 more source

Association of the CCR5 gene with juvenile idiopathic arthritis [PDF]

, 2010
The CC chemokine receptor 5 (CCR5) has been shown to be important in the recruitment of T-helper cells to the synovium, where they accumulate, drive the inflammatory process and the consequent synovitis and joint destruction.
Martin, P., BSPAR Study Group, Barton, A., UKRAG Consortium, Worthington, J., Gardner-Medwin, J. [CAPS and BSPAR Study Groups], Thomson, W., W Thomson, Flynn, E., A Hinks, E Flynn, J Packham, Packham, J., Hinks, A., S Eyre, J Worthington, Eyre, S.; id_orcid, Eyre, S., Barton, A.; id_orcid, P Martin, Childhood Arthritis Prospective Study (CAPS), Martin, P.; id_orcid, A Barton   +22 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

p53 mutation regulates PKD genes and results in co-occurrence of PKD and tumorigenesis

Cancer Biology & Medicine, 2019
Objective Polycystic kidney disease (PKD) is the major cause of kidney failure and mortality in humans. It has always been suspected that the development of cystic kidney disease shares features with tumorigenesis, although the evidence is unclear.
Haili Li, Yongjin Zhang, Juhua Dan, Ruoyu Zhou, Cui Li, Rong Li, Xiaoming Wu, Sanjay Kumar Singh, Jeffrey T. Chang, Julun Yang, Ying Luo   +10 more
doaj   +1 more source

CALCIUM HOMEOSTASIS AND POLYCYSTIN-2 EXPRESSION IN T-LYMPHOBLASTS OF PKD SUBJECTS [PDF]

, 2009
Mutations of polycystin-1 (PC1) and polycystin-2 (PC2), coded by PKD1 and PKD2 genes, account for approximately 85 and 15% of Autosomal Dominant Polycystic Kidney Disease (ADPKD) cases, a common and important inherited kidney disorder.
Durante, Chiara
core  

AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report

Journal of Medical Case Reports
Background Caroli’s disease, an autosomal recessive, hereditary-related disorder, is a rare disease, in which the diagnosis is based primarily on medical imaging and pathophysiological examinations.
Yan Yan, Juanjuan Fu, Lilin Jiang, Zhonghua Lu, Renfang Chen   +4 more
doaj   +1 more source

PKHD1 Gene [PDF]

, 2020
openaire   +1 more source