Lista de obras - Daniela A Braun - Dominio Público Uruguay

Ciliopathies

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

FAT1 mutations cause a glomerulotubular nephropathy

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2017

Mutations in SLC26A1 Cause Nephrolithiasis

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability

artículo científico publicado en 2014

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Lista de obras de 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