Genetic causes of hypomagnesemia, a clinical overview

Neonates with Bartter syndrome have enormous fluid and sodium requirements

(2015) Antonio Azzi et al.   ACTA PAEDIATRICA

Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review

(2015) Cas I. van der Made et al.   AMERICAN JOURNAL OF NEPHROLOGY

Potassium Modulates Electrolyte Balance and Blood Pressure through Effects on Distal Cell Voltage and Chloride

(2015) Andrew S. Terker et al.   Cell Metabolism

The structure of the complex between  -tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism

(2015) M. Serna et al.   JOURNAL OF CELL SCIENCE

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

(2015) J. H. F. de Baaij et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

HNF1B-associated clinical phenotypes: the kidney and beyond

(2015) Detlef Bockenhauer et al.   PEDIATRIC NEPHROLOGY

Magnesium in Man: Implications for Health and Disease

(2015) Jeroen H. F. de Baaij et al.   PHYSIOLOGICAL REVIEWS

Maternal hypomagnesemia causes placental abnormalities and fetal and postnatal mortality

(2015) R.N. Schlegel et al.   PLACENTA

Calcium-sensing receptor 20 years later

(2014) Tariq I. Alfadda et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Nucleotide binding triggers a conformational change of the CBS module of the magnesium transporter CNNM2 from a twisted towards a flat structure

(2014) María Ángeles Corral-Rodríguez et al.   BIOCHEMICAL JOURNAL

Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation

(2014) Tracey D. Graves et al.   BRAIN

Recessive Mutations in PCBD1 Cause a New Type of Early-Onset Diabetes

(2014) D. Simaite et al.   DIABETES

Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR

(2014) Patrick Campbell et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Claudins and the Kidney

(2014) A. S. L. Yu   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum

(2014) Rhian L. Clissold et al.   Nature Reviews Nephrology

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

(2014) Francisco J. Arjona et al.   PLoS Genetics

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

(2013) Sheila Unger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Control of renal calcium, phosphate, Electrolyte, and water excretion by the calcium-sensing receptor

(2013) R. Tyler Miller   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominantFAM111Amutation p.Arg569His

(2013) S.M. Nikkel et al.   CLINICAL GENETICS

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

(2013) J Helen Cross et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A recurrent de novoFAM111Amutation causes kenny-caffey syndrome type 2

(2013) Tsuyoshi Isojima et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

(2013) S. Ferre et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese

(2012) Shusuke Akamatsu et al.   NATURE GENETICS

SeSAME/EAST syndrome—phenotypic variability and delayed activity of the distal convoluted tubule

(2012) Ute I. Scholl et al.   PEDIATRIC NEPHROLOGY

Identification of FAM111A as an SV40 Host Range Restriction and Adenovirus Helper Factor

(2012) Debrah A. Fine et al.   PLoS Pathogens

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

(2011) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia

(2011) Marchel Stuiver et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects

(2011) Hannsjörg W. Seyberth et al.   PEDIATRIC NEPHROLOGY

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

(2011) Sascha Bandulik et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Prevalence of hypo- and hypermagnesemia in an Iranian urban population

(2010) Leila Syedmoradi et al.   ANNALS OF HUMAN BIOLOGY

HNF-1B specifically regulates the transcription of the γa-subunit of the Na+/K+-ATPase

(2010) Silvia Ferrè et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Claudin-16 and claudin-19 function in the thick ascending limb

(2010) Jianghui Hou et al.   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

(2010) M. Reichold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hereditary tubular transport disorders: implications for renal handling of Ca2+and Mg2+

(2009) Henrik Dimke et al.   CLINICAL SCIENCE

The voltage-gated K+ channel subunit Kv1.1 links kidney and brain

(2009) David H. Ellison   JOURNAL OF CLINICAL INVESTIGATION

A missense mutation in the Kv1.1 voltage-gated potassium channel–encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

(2009) Bob Glaudemans et al.   JOURNAL OF CLINICAL INVESTIGATION

HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

(2009) S. Adalat et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

FATAL CONGENITAL MYOPATHY AND GASTROINTESTINAL PSEUDO-OBSTRUCTION DUE TO POLG1 MUTATIONS

(2009) C. Giordano et al.   NEUROLOGY

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

(2009) U. I. Scholl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

EGF Increases TRPM6 Activity and Surface Expression

(2008) S. Thebault et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Gitelman syndrome

(2008) Nine V.A.M. Knoers et al.   Orphanet Journal of Rare Diseases

CLDN16 Genotype Predicts Renal Decline in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

(2007) M. Konrad et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY