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List of works by John J Bissler

A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.

scientific article published on September 1994

A mechanistic approach to inherited polycystic kidney disease.

scientific article

Acute Kidney Injury in Pediatric Patients Receiving Allogeneic Hematopoietic Cell Transplantation: Incidence, Risk Factors, and Outcomes

scientific article published on 28 November 2017

Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference

scientific article published on 02 April 2016

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.

scientific article published on 3 December 2007

Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis

scientific article published in PLoS ONE

Antibody to C1-inhibitor in a patient receiving C1-inhibitor infusions for treatment of hereditary angioneurotic edema with systemic lupus erythematosus reacts with a normal allotype of residue 458 of C1-inhibitor.

scientific article

Apolipoprotein J/clusterin prevents a progressive glomerulopathy of aging

scientific article

C1 inhibitor

scientific article published on 01 January 1993

C1 inhibitor gene sequence facilitates frameshift mutations

scientific article

C1 inhibitor hinge region mutations produce dysfunction by different mechanisms

scientific article published on August 1, 1992

C1- inhibitors and their genes: an update

scientific article published on April 1, 1992

Calcifications associated with pediatric intracranial arterial aneurysms: incidence and correlation with pathogenetic subtypes.

scientific article published on 5 December 2012

Cardiomyocyte aging and hypertrophy: atrial and ventricular changes in normal and myopathic Syrian hamsters

scientific article published on 01 April 1990

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

scientific article published in November 2008

Characterization of renal toxicity in mice administered the marine biotoxin domoic Acid

scientific article

Clinical and molecular insights into tuberous sclerosis complex renal disease.

scientific article published on 09 December 2010

Comparative evaluation of alpha-galactosidase A infusions for treatment of Fabry disease

scientific article

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

scientific article

Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema

scientific article published on 01 March 1994

DNA inverted repeats and human disease

scientific article published on March 27, 1998

DNA lesion-specific co-localization of the Mre11/Rad50/Nbs1 (MRN) complex and replication protein A (RPA) to repair foci.

scientific article published on 14 January 2005

DNA structural transitions within the PKD1 gene.

scientific article published on July 1999

Development of a high-precision continuous extracorporeal hemodiafiltration system

scientific article published on 01 March 1993

Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2

scientific article published on 01 June 2019

Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomised EXIST-1 and EXIST-2 studies

scientific article published on 23 March 2018

Embolization of renal angiomyolipomata in patients with tuberous sclerosis complex

scientific article published on 01 January 2006

Everolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma

scientific article published on 14 January 2019

Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial

scientific article published in The Lancet

Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial.

scientific article published on 08 July 2015

Everolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study

scientific article published on 9 August 2017

Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy

scientific article published on 11 June 2014

Frequency and imaging appearance of hepatic angiomyolipomas in pediatric and adult patients with tuberous sclerosis.

scientific article

Generation, clearance, toxicity and monitoring possibilities of unaccounted uremic toxins for improved dialysis prescriptions.

scientific article published on 14 March 2018

Glomerulocystic kidney disease

scientific article

Healthcare utilization and costs in patients with tuberous sclerosiscomplex-related renal angiomyolipoma

scientific article published on 20 December 2016

Hematuria in children.

scientific article

Hemolytic uremic syndrome in an adolescent with Fusobacterium necrophorum bacteremia.

scientific article

Human TSC-associated renal angiomyolipoma cells are hypersensitive to ER stress ⬇️

scientific article published on July 11, 2012

Hyperglycemia in the absence of cilia accelerates cystogenesis and induces renal damage

scientific article published on 22 April 2015

Impact of ultrasound-guided kidney biopsy simulation on trainee confidence and biopsy outcomes.

scientific article published on 05 December 2012

Increased cancer risk of augmentation cystoplasty: possible role for hyperosmolal microenvironment on DNA damage recognition

scientific article published on 30 July 2009

Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle

scientific article published on 01 March 2002

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated

scientific article published on 17 June 2015

Long-term Clinical Morbidity in Patients With Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex.

scientific article

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

scientific article

Lymphangioleiomyomatosis screening in women with tuberous sclerosis.

scientific article published on August 2013

Measurement of glomerular filtration rate by dynamic contrast-enhanced magnetic resonance imaging using a subject-specific two-compartment model.

scientific article published on 13 April 2016

Natural history of patients with tuberous sclerosis complex related renal angiomyolipoma

scientific article published on 30 March 2017

Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management

scientific article published in September 2016

Optimal treatment of tuberous sclerosis complex associated renal angiomyolipomata: a systematic review

scientific article

Optimizing DpnI digestion conditions to detect replicated DNA.

scientific article

Outcomes of angioembolization and nephrectomy for renal angiomyolipoma associated with tuberous sclerosis complex: a real-world US national study

scientific article published on 23 January 2017

Paradoxical hypertension in hypovolemic children

scientific article published on 01 December 1991

Performance of cystatin C-based equations in a pediatric cohort at high risk of kidney injury.

scientific article published on 10 November 2012

Pharmacokinetics and pharmacodynamics of everolimus in patients with renal angiomyolipoma and tuberous sclerosis complex or lymphangioleiomyomatosis

scientific article published on 18 November 2015

Pooled analysis of menstrual irregularities from three major clinical studies evaluating everolimus for the treatment of tuberous sclerosis complex.

scientific article published on 12 October 2017

Primary cilia regulate the osmotic stress response of renal epithelial cells through TRPM3.

scientific article published on 25 January 2017

Rates of interventional procedures in patients with tuberous sclerosis complex-related renal angiomyolipoma.

scientific article

Renal angiomyolipomata.

scientific article published in September 2004

Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms?

scientific article published on March 2009

Renal manifestation of tuberous sclerosis complex

scientific article published on 01 September 2018

Renal, hepatic, and marrow dysfunction in a patient with chronic renal insufficiency.

scientific article

Replication fork stalling and checkpoint activation by a PKD1 locus mirror repeat polypurine-polypyrimidine (Pu-Py) tract.

scientific article

Replication protein A is required for etoposide-induced assembly of MRE11/RAD50/NBS1 complex repair foci.

scientific article

Replication-dependent instability at (CTG)•(CAG) repeat hairpins in human cells ⬇️

scientific article published on August 1, 2010

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2

scientific article published on 18 March 2015

Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study.

scientific article published on 10 August 2016

Stressed podocytes fail to fold: a potential new role of ER in FSGS

scientific article published on 22 June 2011

Swelling isn't swell

scientific article published in December 2004

The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.

scientific article published on 11 April 2014

The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma.

scientific article published on 9 October 2017

The human DEK oncogene regulates DNA damage response signaling and repair

scientific article

The tuberous sclerosis complex regulates trafficking of glucose transporters and glucose uptake

scientific journal article

Therapies for polycystic kidney disease.

scientific article

Triplex DNA and human disease.

scientific article published on May 2007

Tuberous Sclerosis Complex Renal Disease ⬇️

scientific article published on November 11, 2010

Tuberous sclerosis complex exhibits a new renal cystogenic mechanism

scientific article published on 01 January 2019

Tuberous sclerosis complex, mTOR, and the kidney: report of an NIDDK-sponsored workshop.

scientific article

Tuberous sclerosis complex: renal imaging findings.

scientific article

Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.

scientific article published on March 1995

Unpaired structures in SCA10 (ATTCT)n.(AGAAT)n repeats

scientific article published on 01 February 2003

Unstable spinocerebellar ataxia type 10 (ATTCT*(AGAAT) repeats are associated with aberrant replication at the ATX10 locus and replication origin-dependent expansion at an ectopic site in human cells.

scientific article published on 10 September 2007

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