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Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Hélène Louis-Dit-Picard
Julien Barc
Xavier Jeunemaitre
Amendments and Corrections26 Apr 2012
Nature Genetics

Volume: 44, P: 609
The Mouse Necdin Gene Is Expressed from the Paternal Allele Only and Lies in the 7C Region of the Mouse Chromosome 7, a Region of Conserved Synteny to the Human Prader-Willi Syndrome Region

Françoise Watrin
Nathalie Roëckel
Françoise Muscatelli
Research01 Sept 1997
European Journal of Human Genetics

Volume: 5, P: 324-332
Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

Isabelle Plo, Christine Bellanné-Chantelot, William Vainchenker and colleagues report a 700-kb germline duplication including the ATG2B and GSKIP genes in four related families with myeloid malignancy predisposition. Using induced pluripotent stem cells and primary cells, they demonstrate that ATG2B and GSKIP enhance hematopoietic progenitor differentiation.

Joseph Saliba
Cécile Saint-Martin
Isabelle Plo
Research17 Aug 2015
Nature Genetics

Volume: 47, P: 1131-1140
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Xavier Jeunemaitre, Jean-Jacques Schott and colleagues report mutations of KLHL3 in familial hyperkalemic hypertension. KLHL3 encodes a BTB-BACK-kelch family actin-binding protein and regulates cell surface localization of the NaNa⁺-Cl⁻ cotransporter, a key regulator of ion resorption, at the distal nephron.

Hélène Louis-Dit-Picard
Julien Barc
Xavier Jeunemaitre
Research11 Mar 2012
Nature Genetics

Volume: 44, P: 456-460
Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms

Jean Pegliasco
Pierre Hirsch
Christine Bellanné-Chantelot
Research25 Jun 2021
Leukemia

Volume: 36, P: 126-137

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Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

The Mouse Necdin Gene Is Expressed from the Paternal Allele Only and Lies in the 7C Region of the Mouse Chromosome 7, a Region of Conserved Synteny to the Human Prader-Willi Syndrome Region

Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms

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Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

The Mouse Necdin Gene Is Expressed from the Paternal Allele Only and Lies in the 7C Region of the Mouse Chromosome 7, a Region of Conserved Synteny to the Human Prader-Willi Syndrome Region

Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms

Search

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