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Authors whose works are in public domain in at least one jurisdiction

List of works by Lisa Guay-Woodford

1-44 of 44 results

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

scientific journal article

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

scientific article published on 15 March 2002

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article

Kidney volume and functional outcomes in autosomal dominant polycystic kidney disease.

scientific article published on 16 February 2012

Murine models of polycystic kidney disease: molecular and therapeutic insights

scientific article published on December 1, 2003

Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease

scientific journal article

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

scientific article published on May 2004

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

scientific article

Polyductin undergoes notch-like processing and regulated release from primary cilia

scientific article

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

scientific article

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

scientific article published on 24 September 2008

Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial

scientific article published on 8 January 2015

Loss of primary cilia upregulates renal hypertrophic signaling and promotes cystogenesis.

scientific article

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease

scientific article

Cystin localizes to primary cilia via membrane microdomains and a targeting motif

scientific article

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

scientific article

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference

scientific article

Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference

scientific article

MRI-based kidney volume measurements in ADPKD: reliability and effect of gadolinium enhancement

scientific article published on April 2009

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

scientific article

Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex

scientific article published on 6 July 2006

Microtubule modifications and stability are altered by cilia perturbation and in cystic kidney disease

scientific article published on November 8, 2012

Nurturing passion in a time of academic climate change: the modern-day challenge of junior faculty development

scientific article

Renal CD14 expression correlates with the progression of cystic kidney disease

scientific article

Galectin-3 associates with the primary cilium and modulates cyst growth in congenital polycystic kidney disease

scientific article

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

scientific article

Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.

scientific article

Autosomal recessive polycystic kidney disease: The prototype of the hepato-renal fibrocystic diseases

scientific article published on January 1, 2014

The cpk model of recessive PKD shows glutamine dependence associated with the production of the oncometabolite 2-hydroxyglutarate

scientific article published on July 8, 2015

First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future

scientific article

The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees

scientific article

Preparedness of the CTSA's structural and scientific assets to support the mission of the National Center for Advancing Translational Sciences (NCATS)

scientific article

Renal cystic disease: the role of the primary cilium/centrosome complex in pathogenesis

scientific article

Cystic Kidney Disease: A Primer

scientific article published on July 1, 2015

The Ciliary Protein Cystin Forms a Regulatory Complex with Necdin to Modulate Myc Expression

scientific article published on December 11, 2013

Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD cohort study

scientific article

Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases

scientific article

Genetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk Mouse

scientific article published on 21 August 2015

Telomerase immortalization of principal cells from mouse collecting duct

scientific article published on October 6, 2010

Filling the holes in cystic kidney disease research

scientific article

Rapid evolution of congenital hepatic fibrosis after liver transplantation for acute liver failure: the potential role of extrahepatic factors

scientific article published on May 2008

CTSA Consortium Consensus Scientific Review Committee (SRC) Working Group Report on the SRC Processes

scientific article

X-ray diffraction studies on merohedrally twinned Δ1-62NtNBCe1-A crystals of the sodium/bicarbonate cotransporter

scientific article published on 28 June 2013

Magnetic resonance microscopy of renal and biliary abnormalities in excised tissues from a mouse model of autosomal recessive polycystic kidney disease

scientific article published on August 1, 2015