List of works - Laurence Heidet

A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.

scientific article published on October 2003

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia

scientific article published in June 2004

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.

scientific article published on January 2010

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

scientific article published on 23 June 2013

Acute renal insufficiency in Kawasaki disease

scientific article

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

scientific article

Alport syndrome associated with diffuse leiomyomatosis: COL4A5‐COL4A6 deletion associated with a mild form of Alport nephropathy

scientific article published on 01 January 2002

Alport syndrome or progressive hereditary nephritis with hearing loss

scientific article published on 8 May 2007

Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains

scientific article published on 2 November 2016

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

Benign familial hematuria associated with a novel COL4A4 mutation

scientific article published on 01 November 2001

Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease

scientific article published on 20 March 2020

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

scientific article published on June 2002

Ciliopathies A reference for clinicians

Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative ⬇️

scientific article published on March 30, 2012

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome ⬇️

scientific article published on February 16, 2011

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

scientific article published on 2 July 2015

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

scientific journal article

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

scientific article published on 01 April 1994

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

scientific article published on 01 January 1995

Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction?

scientific article published on 01 November 1998

Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease

scientific article published on 01 January 2001

Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization

scientific article published on 01 February 1997

Early glomerular filtration defect and severe renal disease in podocin-deficient mice

scientific article

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2

scientific article published on 20 January 2016

Evidence of digenic inheritance in Alport syndrome

scientific article published on 9 January 2015

Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.

scientific article

Fetal serum α‐1 microglobulin for renal function assessment: comparison with β2‐microglobulin and cystatin C ⬇️

scientific article published on May 14, 2013

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

scientific article

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys

scientific article published on June 2000

Hepatocyte nuclear factor 1β controls nephron tubular development

scientific article published in February 2013

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

scientific article published on 22 October 2010

Human mutations affect the epigenetic/bookmarking function of HNF1B

scientific article

Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation.

scientific article

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

scientific article

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation

scientific article published on 01 September 2004

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys

scientific article

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

scientific article published on 11 January 2012

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

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

scientific article

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

scientific article

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

scientific article

Murine membranous nephropathy: immunization with α3(IV) collagen fragment induces subepithelial immune complexes and FcγR-independent nephrotic syndrome.

scientific article published on 27 February 2012

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

article

Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.

scientific article published on January 1996

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

article

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region

scientific article published on 01 January 1997

Outcome following prenatal diagnosis of severe bilateral renal hypoplasia ⬇️

scientific article published on September 1, 2013

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

scientific article

Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers.

scientific article published on 18 August 2012

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

scientific article published on 13 April 2011

Repression of CMIP transcription by WT1 is relevant to podocyte health

scientific article published on 17 September 2016

Sequence and structure of the human OXA1L gene and its upstream elements ⬇️

scientific article published on July 10, 1997

Sequential fetal serum β2-microglobulin to predict postnatal renal function in bilateral or low urinary tract obstruction.

scientific article published on 20 May 2016

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

scientific article published on 28 March 2013

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females

scientific article published on 01 December 1995

Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus ⬇️

scientific article published on March 1, 1998

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

scientific article

Stem cell therapy for Alport syndrome: the hope beyond the hype

scientific article published on 25 December 2008

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

scientific article published in January 2001

TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia

scientific article published on 01 January 2014

The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes

scientific article

The alloantigenic sites of alpha3alpha4alpha5(IV) collagen: pathogenic X-linked alport alloantibodies target two accessible conformational epitopes in the alpha5NC1 domain

scientific article published on 09 February 2007

The renal lesions of Alport syndrome

scientific article published on 21 May 2009

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

scientific article published on 31 January 2012

[Diffuse leiomyomatosis with genital involvement and Alport syndrome. Report of two cases]

scientific article published on 01 September 1998

List of works by Laurence Heidet

A human-mouse chimera of the alpha3alpha4alpha5(IV) collagen protomer rescues the renal phenotype in Col4a3-/- Alport mice.

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

Acute renal insufficiency in Kawasaki disease

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

Alport syndrome associated with diffuse leiomyomatosis: COL4A5‐COL4A6 deletion associated with a mild form of Alport nephropathy

Alport syndrome or progressive hereditary nephritis with hearing loss

Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

Benign familial hematuria associated with a novel COL4A4 mutation

Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

Ciliopathies A reference for clinicians

Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative ⬇️

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome ⬇️

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours

Diffuse Leiomyomatosis of the Esophagus: Disorder of Cell-Matrix Interaction?

Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease

Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization

Early glomerular filtration defect and severe renal disease in podocin-deficient mice

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2

Evidence of digenic inheritance in Alport syndrome

Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.

Fetal serum α‐1 microglobulin for renal function assessment: comparison with β2‐microglobulin and cystatin C ⬇️

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys

Hepatocyte nuclear factor 1β controls nephron tubular development

Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes

Human mutations affect the epigenetic/bookmarking function of HNF1B

Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation.

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

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

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency.

Murine membranous nephropathy: immunization with α3(IV) collagen fragment induces subepithelial immune complexes and FcγR-independent nephrotic syndrome.

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region

Outcome following prenatal diagnosis of severe bilateral renal hypoplasia ⬇️

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations

Prognosis and outcome of pregnancies exposed to renin-angiotensin system blockers.

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

Repression of CMIP transcription by WT1 is relevant to podocyte health

Sequence and structure of the human OXA1L gene and its upstream elements ⬇️

Sequential fetal serum β2-microglobulin to predict postnatal renal function in bilateral or low urinary tract obstruction.

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females

Somatic deletion of the 5' ends of both the COL4A5 and COL4A6 genes in a sporadic leiomyoma of the esophagus ⬇️

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases

Stem cell therapy for Alport syndrome: the hope beyond the hype

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia

The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes

The alloantigenic sites of alpha3alpha4alpha5(IV) collagen: pathogenic X-linked alport alloantibodies target two accessible conformational epitopes in the alpha5NC1 domain

The renal lesions of Alport syndrome

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

[Diffuse leiomyomatosis with genital involvement and Alport syndrome. Report of two cases]