Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

(2021) Eva Schrezenmeier et al.   GENETICS IN MEDICINE

Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

(2021) Kathrin Burgmaier et al.   KIDNEY INTERNATIONAL

Whole-genome sequencing of patients with rare diseases in a national health system

(2020) Ernest Turro et al.   NATURE

The STRING database in 2021: customizable protein–protein networks, and functional characterization of user-uploaded gene/measurement sets

(2020) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Tulp3 Regulates Renal Cystogenesis by Trafficking of Cystoproteins to Cilia

(2019) Sun-Hee Hwang et al.   CURRENT BIOLOGY

Tulp3 Is a Ciliary Trafficking Gene that Regulates Polycystic Kidney Disease

(2019) Emilie Legué et al.   CURRENT BIOLOGY

Fibroblast Primary Cilia are Required for Cardiac Fibrosis

(2019) Elisa Villalobos et al.   CIRCULATION

Inhibition of SIRT1 deacetylase and p53 activation uncouples the anti-inflammatory and chemopreventive actions of NSAIDs

(2019) Giulia Dell’Omo et al.   BRITISH JOURNAL OF CANCER

The Shh/Gli signaling cascade regulates myofibroblastic activation of lung-resident mesenchymal stem cells via the modulation of Wnt10a expression during pulmonary fibrogenesis

(2019) Honghui Cao et al.   LABORATORY INVESTIGATION

Autosomal dominant tubulointerstitial kidney disease

(2019) Olivier Devuyst et al.   Nature Reviews Disease Primers

SIRT1 activation attenuates cardiac fibrosis by endothelial-to-mesenchymal transition

(2019) Zhen-Hua Liu et al.   BIOMEDICINE & PHARMACOTHERAPY

Insights from human genetic studies of lung and organ fibrosis

(2018) Christine Kim Garcia   JOURNAL OF CLINICAL INVESTIGATION

TULP3 is required for localization of membrane-associated proteins ARL13B and INPP5E to primary cilia

(2018) Sarina Han et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

(2017) Shalabh Srivastava et al.   HUMAN MOLECULAR GENETICS

Tubby family proteins are adapters for ciliary trafficking of integral membrane proteins

(2017) Hemant B. Badgandi et al.   JOURNAL OF CELL BIOLOGY

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

(2017) Hao Lu et al.   NATURE GENETICS

A high-resolution mRNA expression time course of embryonic development in zebrafish

(2017) Richard J White et al.   eLife

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Fibrosis — A Common Pathway to Organ Injury and Failure

(2015) Don C. Rockey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hepatorenal fibrocystic diseases in children

(2015) Eujin Park et al.   PEDIATRIC NEPHROLOGY

The Ciliary G-Protein-Coupled Receptor Gpr161 Negatively Regulates the Sonic Hedgehog Pathway via cAMP Signaling

(2013) Saikat Mukhopadhyay et al.   CELL

Sirt1 Activation Ameliorates Renal Fibrosis by Inhibiting the TGF-β/Smad3 Pathway

(2013) Xin-Zhong Huang et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium

(2013) Christian Alexandro Clement et al.   Cell Reports

The Hedgehog System Machinery Controls Transforming Growth Factor-β–Dependent Myofibroblastic Differentiation in Humans

(2012) Natacha Cigna et al.   AMERICAN JOURNAL OF PATHOLOGY

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

(2012) Moumita Chaki et al.   CELL

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

(2012) Weibin Zhou et al.   NATURE GENETICS

Understanding the mechanism of hepatic fibrosis and potential therapeutic approaches

(2012) Riaz Ahmad et al.   Saudi Journal of Gastroenterology

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

(2011) William E. Dowdle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia

(2010) S. Mukhopadhyay et al.   GENES & DEVELOPMENT

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

(2009) Stephanie L Bielas et al.   NATURE GENETICS