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Expression and phosphorylation of the Na+-Cl- cotransporter NCC in vivo is regulated by dietary salt, potassium, and SGK1

American Journal of Physiology - Renal Physiology, 2009-09, Vol.297 (3), p.F704-F712

2009

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Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Nature genetics, 2015-07, Vol.47 (7), p.809-813

2015

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Exome sequencing can improve diagnosis and alter patient management

Science translational medicine, 2012-06, Vol.4 (138), p.138ra78

2012

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Adenylate Cyclase 6 Determines cAMP Formation and Aquaporin-2 Phosphorylation and Trafficking in Inner Medulla

Journal of the American Society of Nephrology, 2010-12, Vol.21 (12), p.2059-2068

2010

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Dietary Na⁺ inhibits the open probability of the epithelial sodium channel in the kidney by enhancing apical P2Y₂-receptor tone

The FASEB journal, 2010-06, Vol.24 (6), p.2056-2065

2010

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Mutations in CSPP1 Lead to Classical Joubert Syndrome

American journal of human genetics, 2014-01, Vol.94 (1), p.80-86

2014

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TRB3 is stimulated in diabetic kidneys, regulated by the ER stress marker CHOP, and is a suppressor of podocyte MCP-1

American Journal of Physiology - Renal Physiology, 2010-11, Vol.299 (5), p.F965-F972

2010

Volltextzugriff (PDF)

Targeted Disruption of the Murine Retinal Dehydrogenase Gene Rdh12 Does Not Limit Visual Cycle Function

Molecular and Cellular Biology, 2007-02, Vol.27 (4), p.1370-1379

2007

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Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

Nature cell biology, 2011-06, Vol.13 (6), p.700

2011

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SGLT2 mediates glucose reabsorption in the early proximal tubule

Journal of the American Society of Nephrology, 2011-01, Vol.22 (1), p.104-112

2011

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SGLT2 Mediates Glucose Reabsorption in the Early Proximal Tubule

Journal of the American Society of Nephrology, 2011, Vol.22 (1), p.104-112

2011

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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Science (American Association for the Advancement of Science), 2014-01, Vol.343 (6170), p.506-511

2014

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Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Science (American Association for the Advancement of Science), 2012-10, Vol.338 (6105), p.394-397

2012

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Nature genetics, 2015-05, Vol.47 (5), p.528-534

2015

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Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Neuron (Cambridge, Mass.), 2014-12, Vol.84 (6), p.1226-1239

2014

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Thiazolidinedione-Induced Fluid Retention Is Independent of Collecting Duct αENaC Activity

Journal of the American Society of Nephrology, 2009-04, Vol.20 (4), p.721-729

2009

Volltextzugriff (PDF)

Adenosine A1 Receptors Determine Glomerular Hyperfiltration and the Salt Paradox in Early Streptozotocin Diabetes Mellitus

Nephron. Physiology, 2009-03, Vol.111 (3), p.p30-p38

2009

Volltextzugriff (PDF)

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

eLife, 2015-05, Vol.4, p.e06602-e06602

2015

Volltextzugriff (PDF)

Adenosine A(1) receptors determine glomerular hyperfiltration and the salt paradox in early streptozotocin diabetes mellitus

Nephron. Physiology, 2009, Vol.111 (3), p.p30-p38

2009

Volltextzugriff (PDF)

Expression and phosphorylation of the Na+-Cl- cotransporter NCC in vivo is regulated by dietary salt, potassium, and SGK1

American journal of physiology. Renal physiology, 2009, Vol.66 (3)

2009

Volltextzugriff (PDF)

Defining roles for P2Y2 and P2Y4 receptors on blood pressure and urinary excretion

The FASEB journal, 2010-04, Vol.24, p.606.3-606.3

2010

Volltextzugriff (PDF)

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Expression and phosphorylation of the Na+-Cl- cotransporter NCC in vivo is regulated by dietary salt, potassium, and SGK1

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Exome sequencing can improve diagnosis and alter patient management

Adenylate Cyclase 6 Determines cAMP Formation and Aquaporin-2 Phosphorylation and Trafficking in Inner Medulla

Dietary Na⁺ inhibits the open probability of the epithelial sodium channel in the kidney by enhancing apical P2Y₂-receptor tone

Mutations in CSPP1 Lead to Classical Joubert Syndrome

TRB3 is stimulated in diabetic kidneys, regulated by the ER stress marker CHOP, and is a suppressor of podocyte MCP-1

Targeted Disruption of the Murine Retinal Dehydrogenase Gene Rdh12 Does Not Limit Visual Cycle Function

Subcellular spatial regulation of canonical Wnt signalling at the primary cilium

SGLT2 mediates glucose reabsorption in the early proximal tubule

SGLT2 Mediates Glucose Reabsorption in the Early Proximal Tubule

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Thiazolidinedione-Induced Fluid Retention Is Independent of Collecting Duct αENaC Activity

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

Adenosine A1 Receptors Determine Glomerular Hyperfiltration and the Salt Paradox in Early Streptozotocin Diabetes Mellitus

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Loss of Protocadherin‐12 L eads to D iencephalic‐ M esencephalic J unction D ysplasia S yndrome

Adenosine A(1) receptors determine glomerular hyperfiltration and the salt paradox in early streptozotocin diabetes mellitus

Expression and phosphorylation of the Na+-Cl- cotransporter NCC in vivo is regulated by dietary salt, potassium, and SGK1

Defining roles for P2Y2 and P2Y4 receptors on blood pressure and urinary excretion

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