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Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment

Osteoporosis international, 2016-12, Vol.27 (12), p.3615-3626

2016

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Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

British journal of dermatology (1951), 2017-07, Vol.177 (1), p.319-322

2017

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Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

Science (American Association for the Advancement of Science), 1999-07, Vol.285 (5424), p.103-106

1999

Volltextzugriff (PDF)

Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Nature genetics, 2000-09, Vol.26 (1), p.71-75

2000

Volltextzugriff (PDF)

WNK1, a Kinase Mutated in Inherited Hypertension with Hyperkalemia, Localizes to Diverse Cl--Transporting Epithelia

Proceedings of the National Academy of Sciences - PNAS, 2003-01, Vol.100 (2), p.663-668

2003

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Corrective gene transfer in the human skin disorder lamellar ichthyosis

Nature medicine, 1996-11, Vol.2 (11), p.1263-1267

1996

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Direct cutaneous gene delivery in a human genetic skin disease

Human gene therapy, 1997-09, Vol.8 (14), p.1659-1665

1997

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Fas Signal Transduction Triggers Either Proliferation or Apoptosis in Human Fibroblasts

Journal of investigative dermatology, 1997-02, Vol.108 (2), p.215-219

1997

Volltextzugriff (PDF)

Salt and blood pressure: new insight from human genetic studies

Cold Spring Harbor Symposia on Quantitative Biology, 2002, Vol.67, p.445

2002

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A Model of Corrective Gene Transfer in X-Linked Ichthyosis

Human molecular genetics, 1997-06, Vol.6 (6), p.927-933

1997

Volltextzugriff (PDF)

Sustainability of keratinocyte gene transfer and cell survival in vivo

Human gene therapy, 1997-05, Vol.8 (8), p.895-901

1997

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Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes

Human gene therapy, 1996-12, Vol.7 (18), p.2247-2253

1996

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WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl super([minus])-transporting epithelia

Proceedings of the National Academy of Sciences - PNAS, 2003-01, Vol.100 (2), p.663-668

2003

Volltextzugriff (PDF)

High-Efficiency Gene Transfer and Pharmacologic Selection of Genetically Engineered Human Keratinocytes

BioTechniques, 1998-08, Vol.25 (2), p.274-280

1998

Volltextzugriff (PDF)

Specific Triggering of the Fas Signal Transduction Pathway in Normal Human Keratinocytes

The Journal of biological chemistry, 1996-12, Vol.271 (49), p.31666-31669

1996

Volltextzugriff (PDF)

Transglutaminase 1 expression in a patient with features of harlequin ichthyosis: Case report

Journal of the American Academy of Dermatology, 1998-02, Vol.38 (2), p.325-329

1998

Volltextzugriff (PDF)

Paracellin-1, a renal tight junction protein required for paracellular Mg super(2+) resorption

Science (American Association for the Advancement of Science), 1999-07, Vol.285 (5424), p.103-106

1999

Volltextzugriff (PDF)

Gene flow estimates in Utah's cougars imply management beyond Utah

Animal conservation, 2001-08, Vol.4 (3), p.257-264

2001

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Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

WNK1, a Kinase Mutated in Inherited Hypertension with Hyperkalemia, Localizes to Diverse Cl--Transporting Epithelia

Corrective gene transfer in the human skin disorder lamellar ichthyosis

Direct cutaneous gene delivery in a human genetic skin disease

Fas Signal Transduction Triggers Either Proliferation or Apoptosis in Human Fibroblasts

Salt and blood pressure: new insight from human genetic studies

A Model of Corrective Gene Transfer in X-Linked Ichthyosis

Sustainability of keratinocyte gene transfer and cell survival in vivo

Transglutaminase 1 delivery to lamellar ichthyosis keratinocytes

WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl super([minus])-transporting epithelia

High-Efficiency Gene Transfer and Pharmacologic Selection of Genetically Engineered Human Keratinocytes

Specific Triggering of the Fas Signal Transduction Pathway in Normal Human Keratinocytes

Transglutaminase 1 expression in a patient with features of harlequin ichthyosis: Case report

Paracellin-1, a renal tight junction protein required for paracellular Mg super(2+) resorption

Gene flow estimates in Utah's cougars imply management beyond Utah

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