Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations

Exploring the genetic basis of early-onset chronic kidney disease

(2016) Asaf Vivante et al.   Nature Reviews Nephrology

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

(2016) Valentina Grampa et al.   PLoS Genetics

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

(2015) Asaf Vivante et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Leukemia inhibitory factor (LIF)

(2015) Nicos A. Nicola et al.   CYTOKINE & GROWTH FACTOR REVIEWS

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)

(2015) Anne Kosfeld et al.   HUMAN GENETICS

Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

(2015) Daw-Yang Hwang et al.   HUMAN GENETICS

Genetic, environmental and epigenetic factors involved in CAKUT

(2015) Nayia Nicolaou et al.   Nature Reviews Nephrology

Fibroblast growth factor receptor signaling in kidney and lower urinary tract development

(2015) Kenneth A. Walker et al.   PEDIATRIC NEPHROLOGY

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

(2014) Camille Humbert et al.   AMERICAN JOURNAL OF HUMAN GENETICS

iDISCO: A Simple, Rapid Method to Immunolabel Large Tissue Samples for Volume Imaging

(2014) Nicolas Renier et al.   CELL

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology

(2014) Dawn Mikelonis et al.   Orphanet Journal of Rare Diseases

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

(2014) Mariarosa A. B. Melone et al.   Annals of Clinical and Translational Neurology

The Regulation of Testicular Descent and the Effects of Cryptorchidism

(2013) John M. Hutson et al.   ENDOCRINE REVIEWS

Mutations in DSTYK and Dominant Urinary Tract Malformations

(2013) S. Sanna-Cherchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Stüve-Wiedemann syndrome and related bent bone dysplasias

(2012) N A Akawi et al.   CLINICAL GENETICS

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

(2012) Rajshekhar Chatterjee et al.   HUMAN GENETICS

The WSXWS Motif in Cytokine Receptors Is a Molecular Switch Involved in Receptor Activation: Insight from Structures of the Prolactin Receptor

(2012) Robert Dagil et al.   STRUCTURE

Renal Aplasia in Humans Is Associated with RET Mutations

(2008) Michael A. Skinner et al.   AMERICAN JOURNAL OF HUMAN GENETICS