Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics
Frontiers in Genetics, 2021 BackgroundAutosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or biallelic (PKHD1) germline variation. Clinical presentations are genotype-dependent
Jonathan de Fallois +5 more
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"Análise do padrão de expressão do produto de PKHD1, o gene mutado na doença renal policística autossômica recessiva" [PDF]
, 2004 Luís F. Menezes
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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 +14 more
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, 2023 Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes early childhood morbidity and mortality.
Barseghyan, Hayk +11 more
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Functionally Annotating Regulatory Elements in the Equine Genome Using Histone Mark ChIP-Seq. [PDF]
, 2019 One of the primary aims of the Functional Annotation of ANimal Genomes (FAANG) initiative is to characterize tissue-specific regulation within animal genomes.
Bellone, Rebecca R +9 more
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Dominant and Recessive Polycystic Kidney Disease: A Novel Molecular Diagnostics Approach Based on Next-Generation Sequencing [PDF]
, 2017 Polycystic Kidney Disease (PKD) is the most common genetic cause of kidney failure in children and adults and can be inherited as an autosomal dominant trait (ADPKD) or an autosomal recessive trait (ARPKD). ADPKD is the most common form, characterized by
Minardi, Raffaella <1987>
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Cystic kidney diseases: many ways to form a cyst [PDF]
, 2012 Renal cysts are a common radiological finding in both adults and children. They occur in a variety of conditions, and the clinical presentation, management, and prognosis varies widely.
Loftus, H., Ong, A.C.M.
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Mutated Pkhd1 alone is sufficient to cause autoimmune biliary disease on the nonobese diabetic (NOD) genetic background [PDF]
, 2022 We previously reported that nonobese diabetic (NOD) congenic mice (NOD.c3c4 mice) developed an autoimmune biliary disease (ABD) with similarities to human primary biliary cholangitis (PBC), including anti-mitochondrial antibodies and organ-specific ...
Adams, David E +4 more
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Clinical aspects of autosomal recessive polycystic kidney disease [PDF]
, 2010 INTRODUÇÃO: A Doença Renal Policística Autossômica Recessiva (DRPAR) é uma causa importante de morbidade e mortalidade pediátricas, com um espectro variável de manifestações clínicas. MÉTODOS: A apresentação e evolução clínica de 25 pacientes (Pts) foram
DIAS, Natasha Favoretto +3 more
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Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1 [PDF]
, 2014 Autosomal recessive polycystic kidney disease (ARPKD) results from mutations in the human PKHD1 gene. Both this gene, and its mouse ortholog, Pkhd1, are primarily expressed in renal and biliary ductal structures.
Boddu, R +10 more
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