List of works - Daniela A Braun

Ciliopathies

scientific article published on 28 October 2016

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature

scientific article published on 17 August 2017

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

scientific article

Decreased number of circulating progenitor cells in obesity: beneficial effects of weight reduction

scientific article published on 30 May 2008

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

FAT1 mutations cause a glomerulotubular nephropathy

scientific article

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

scientific article

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

scientific article

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

scientific article

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

scientific article published on 16 December 2015

Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte

scientific article published on 8 December 2016

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

scientific article published on 14 August 2017

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

scientific journal article

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

scientific article

Mutations in SLC26A1 Cause Nephrolithiasis

scientific article published on 18 May 2016

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

scientific article published on 19 September 2013

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

article

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

scientific journal article

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

scientific article

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

scientific article published on 06 February 2017

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

scientific article

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

scientific article published on 19 January 2016

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

scientific article

The Vac14-interaction network is linked to regulators of the endolysosomal and autophagic pathway

scientific article published on 27 February 2014

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

scientific article published on 09 May 2016

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

scientific article published on 8 September 2017

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

scientific article

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

scientific article published on October 2013

List of works by Daniela A Braun

Ciliopathies

Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling

Decreased number of circulating progenitor cells in obesity: beneficial effects of weight reduction

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

FAT1 mutations cause a glomerulotubular nephropathy

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Mutations in SLC26A1 Cause Nephrolithiasis

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

The Vac14-interaction network is linked to regulators of the endolysosomal and autophagic pathway

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia