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Macrophages promote polycystic kidney disease progression

Kidney international, 2013-05, Vol.83 (5), p.855-864

2013

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Nephronophthisis-associated ciliopathies

Journal of the American Society of Nephrology, 2007-06, Vol.18 (6), p.1855-1871

2007

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Cilia and polycystic kidney disease

Seminars in cell & developmental biology, 2021-02, Vol.110, p.139-148

Ma, Ming

2021

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A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases

BMC pregnancy and childbirth, 2024-10, Vol.24 (1), p.662-6, Article 662

2024

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A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

Science immunology, 2018-06, Vol.3 (24)

2018

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Inherited ichthyosis: Non-syndromic forms

Journal of dermatology, 2016-03, Vol.43 (3), p.242-251

2016

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Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease

Pediatric nephrology (Berlin, West), 2021-09, Vol.36 (9), p.2639-2658

2021

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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

The FASEB journal, 2023-07, Vol.37 (7), p.e23008-e23008

2023

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The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Biochimica et biophysica acta. Molecular basis of disease, 2022-04, Vol.1868 (4), p.166348-166348, Article 166348

2022

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Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Scientific reports, 2019-05, Vol.9 (1), p.7919-7919, Article 7919

2019

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Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects

Pediatrics (Evanston), 2014-09, Vol.134 (3), p.e833-e845

2014

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Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model

The Journal of pharmacology and experimental therapeutics, 2019-09, Vol.370 (3), p.806-813

2019

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An estimate of the average number of recessive lethal mutations carried by humans

Genetics (Austin), 2015-04, Vol.199 (4), p.1243-1254

2015

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Overcoming constraints on the detection of recessive selection in human genes from population frequency data

American journal of human genetics, 2022-01, Vol.109 (1), p.33-49

2022

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Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres

Journal of hypertension, 2022-03, Vol.40 (3), p.425-431

2022

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Octreotide Inhibits Hepatic Cystogenesis in a Rodent Model of Polycystic Liver Disease by Reducing Cholangiocyte Adenosine 3′,5′-Cyclic Monophosphate

Gastroenterology (New York, N.Y. 1943), 2007-03, Vol.132 (3), p.1104-1116

2007

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Recessive gene disruptions in autism spectrum disorder

Nature genetics, 2019-07, Vol.51 (7), p.1092-1098

2019

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Map-based cloning and characterization of BPH29, a B3 domain-containing recessive gene conferring brown planthopper resistance in rice

Journal of experimental botany, 2015-09, Vol.66 (19), p.6035-6045

2015

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Autosomal‐Recessive Cerebellar Ataxias and Movement Disorders With Elevated Alpha‐Fetoprotein

Movement disorders, 2021-03, Vol.36 (3), p.789-789

2021

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Ameliorating liver disease in an autosomal recessive polycystic kidney disease mouse model

American journal of physiology: Gastrointestinal and liver physiology, 2023-05, Vol.324 (5), p.G404-G414

2023

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Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management

Seminars in nephrology, 2023-07, Vol.43 (4), p.151434-151434, Article 151434

2023

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A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism

Kidney international, 2017-11, Vol.92 (5), p.1130-1144

2017

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Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case

Journal of dermatology, 2023-08, Vol.50 (8), p.e238-e239

2023

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A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35

The Journal of biological chemistry, 2024-04, Vol.300 (4), p.107124-107124, Article 107124

2024

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A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?

BMC nephrology, 2024-06, Vol.25 (1), p.209-5, Article 209

2024

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Macrophages promote polycystic kidney disease progression

Nephronophthisis-associated ciliopathies

Cilia and polycystic kidney disease

A rare cause of echogenic kidneys with oligohydramnios in the fetus: report of two different cases

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

Inherited ichthyosis: Non-syndromic forms

Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease

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

The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects

Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model

An estimate of the average number of recessive lethal mutations carried by humans

Overcoming constraints on the detection of recessive selection in human genes from population frequency data

Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres

Octreotide Inhibits Hepatic Cystogenesis in a Rodent Model of Polycystic Liver Disease by Reducing Cholangiocyte Adenosine 3′,5′-Cyclic Monophosphate

Recessive gene disruptions in autism spectrum disorder

Map-based cloning and characterization of BPH29, a B3 domain-containing recessive gene conferring brown planthopper resistance in rice

Autosomal‐Recessive Cerebellar Ataxias and Movement Disorders With Elevated Alpha‐Fetoprotein

Ameliorating liver disease in an autosomal recessive polycystic kidney disease mouse model

Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management

A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism

Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35

A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?

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