Disease: Autosomal recessive polycystic kidney disease
- <em>PKHD1L1</em>, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
- <em>PKHD1L1</em>, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
- A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?
- A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
- A novel <em>PKHD1</em> splicing variant identified in a fetus with autosomal recessive polycystic kidney disease
- A novel ARPKD mouse model with near-complete deletion of the Polycystic Kidney and Hepatic Disease 1 (Pkhd1) genomic locus presents with multiple phenotypes but not renal cysts
- Advanced Chronic Kidney Disease (CKD) in a Patient With Alstrom Syndrome
- Ameliorating liver disease in an autosomal recessive polycystic kidney disease mouse model
- AN 84-YEAR-OLD PATIENT WITH CAROLI SYNDROME: WHAT IS THE PROGNOSIS OF THIS CONDITION?
- Aspectos genéticos e imagenológicos de la enfermedad quística renal en pediatría: serie de casos
- Autoptic aspects in a case of autosomal dominant polycystic kidney disease
- Autosomal dominant and autosomal recessive polycystic kidney disease: hypertension and secondary cardiovascular effect in children
- Autosomal Dominant Polycystic Kidney Disease
- Autosomal Dominant Polycystic Kidney Disease
- Autosomal Recessive Polycystic Kidney Disease
- Autosomal Recessive Polycystic Kidney Disease
- Autosomal Recessive Polycystic Kidney Disease - PKHD1
- Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management
- Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
- Caroli Disease
- Caroli Disease
- Caroli disease with subcutaneous hemorrhage as the sole clinical manifestation: A case report
- Caroli's Disease Associated with Autosomal Dominant Polycystic Kidney Disease with Acute Pancreatitis: A Case Report
- Case report: Rare genetic liver disease - a case of congenital hepatic fibrosis in adults with autosomal dominant polycystic kidney disease
- Case report: Severe hypertension-induced priapism in an infant with unrecognized autosomal recessive polycystic kidney disease
- Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies
- Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease
- Combined liver-kidney transplantation in pediatric patients
- Complications and prognosis of patients diagnosed with autosomal recessive polycystic kidney disease in neonatal period
- Corrigendum to "Atypical Clinical Presentation of Autosomal Recessive Polycystic Kidney Mimicking Medullary Sponge Kidney Disease" [Kidney International Reports Volume 7, Issue 4, April 2022, Pages 916-919]
- Cystic Diseases of the Kidneys: From Bench to Bedside
- Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management
- Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells: A mechanistic connection between the kidney defects in cpk mice and human ARPKD
- Defects of renal tubular homeostasis and cystogenesis in the <em>Pkhd1</em> knockout
- Differential regulation of MYC expression by <em>PKHD1/Pkhd1</em> in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease
- Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease
- Dnajb11 -Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice
- Dnajb11 -Kidney supDevelops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice
- Editorial: Cystic kidney diseases in children and adults: from diagnosis to etiology and back
- Editorial: Molecular mechanisms underlying polycystic kidney disease: from the smallest bricks to the big scenario
- Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa
- Expanded prenatal phenotype of ALG12-associated congenital disorder of glycosylation including bilateral multicystic kidneys
- Experimental Models of Polycystic Kidney Disease: Applications and Therapeutic Testing
- Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies
- Fetal renal cystic disease and post-natal follow up-a single center experience
- Fibrocystin/Polyductin releases a C-terminal fragment that translocates into mitochondria and suppresses cystogenesis
- First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family
- Genetic and radiological aspects of pediatric renal cystic disease: A case series
- Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome
- Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait
- Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes
- Identification of novel <em>TMEM231</em> gene splice variants and pathological findings in a fetus with Meckel Syndrome
- Metformin does not slow cyst growth in the PCK rat model of polycystic kidney disease
- Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases
- Next generation sequencing identifies WNT signalling as a significant pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) manifestation and may be linked to disease severity
- Novel homozygous mutations in TXNDC15 causing Meckel syndrome
- Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family
- Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of <em>PKHD1</em>
- Pkhd1<sup>cyli/cyli</sup> mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease
- Potter sequence in a newborn with polycystic kidney disease
- Potter Syndrome
- Prenatal exome sequencing for morphologically normal fetus: Should we be doing it?
- Primary Cilia Elongation in Early-Onset Polycystic Kidney Disease with 2 Hypomorphic PKD1 Alleles: A Case Report
- Proteogenomics in Nephrology: A New Frontier in Nephrological Research
- Protocol for the nationwide registry of patients with polycystic kidney disease: japanese national registry of PKD (JRP)
- Raising serum uric acid with a uricase inhibitor worsens PKD in rat and mouse models
- Renal ciliopathies: promising drug targets and prospects for clinical trials
- Renal Cyst
- Renal Pathology of Ciliopathies
- Repurposing small molecules for nephronophthisis and related renal ciliopathies
- Research progress on the pathogenesis autosomal recessive polycystic kidney disease
- Shift from severe hypotension to salt-dependent hypertension in a child with autosomal recessive polycystic kidney disease after bilateral nephrectomies: a case report
- Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review
- Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review
- State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies
- Survival of Infants With Severe Congenital Kidney Disease After ECMO and Kidney Support Therapy
- Targeted Next Generation Sequencing Revealed Novel Variants in the <em>PKD1</em> and <em>PKD2</em> Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease
- The ARPKD Protein DZIP1L Regulates Ciliary Protein Entry by Modulating the Architecture and Function of Ciliary Transition Fibers
- The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
- The genetic spectrum of polycystic kidney disease in children
- The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)
- The Pathophysiology of Inherited Renal Cystic Diseases
- TRPV4 functional status in cystic cells regulates cystogenesis in autosomal recessive polycystic kidney disease during variations in dietary potassium
- Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease
- Vascular Dysfunction in Polycystic Kidney Disease: A Mini-Review