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The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 990 - 995
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2009, Volume 106, Issue 37, pp. 15750 - 15755
Magnesium (Mg²⁺) is the second most abundant cation in cells, yet relatively few mechanisms have been identified that regulate cellular levels of this ion. The... 
T lymphocytes | Proteins | Yeasts | Vertebrates | Messenger RNA | Cell lines | Small interfering RNA | Homeostasis | Magnesium | Embryos | Zebrafish | KMG104-AM | ALR1 | TRPM | Transporter | SECONDARY HYPOCALCEMIA | HUMAN SOLUTE CARRIER | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | FAMILIAL HYPOMAGNESEMIA | CARDIAC MYOCYTES | FUNCTIONAL-CHARACTERIZATION | SACCHAROMYCES-CEREVISIAE | INTRACELLULAR MAGNESIUM | transporter | CYTOSOLIC FREE MAGNESIUM | zebrafish | MGTE MG2+ TRANSPORTERS | Cation Transport Proteins - antagonists & inhibitors | Tumor Suppressor Proteins - antagonists & inhibitors | Saccharomyces cerevisiae - genetics | Humans | Male | Oligodeoxyribonucleotides, Antisense - genetics | RNA, Messenger - metabolism | Zebrafish - embryology | Genetic Complementation Test | Saccharomyces cerevisiae - metabolism | Tissue Distribution | Cation Transport Proteins - metabolism | Base Sequence | Tumor Suppressor Proteins - genetics | Cation Transport Proteins - genetics | Female | Ion Transport | Membrane Proteins - metabolism | Recombinant Proteins - metabolism | Cell Line | Tumor Suppressor Proteins - metabolism | Protein Structure, Secondary | Animals, Genetically Modified | Jurkat Cells | Membrane Proteins - genetics | Zebrafish Proteins - metabolism | RNA, Messenger - genetics | Zebrafish Proteins - antagonists & inhibitors | Embryonic Development - genetics | Embryonic Development - physiology | Magnesium - metabolism | Recombinant Proteins - genetics | Saccharomyces cerevisiae Proteins - genetics | Zebrafish - genetics | Pregnancy | Animals | Membrane Proteins - antagonists & inhibitors | Zebrafish - metabolism | Saccharomyces cerevisiae Proteins - metabolism | Zebrafish Proteins - genetics | Cation Transport Proteins - chemistry | Saccharomyces cerevisiae - growth & development | Embryonic development | Biological transport | Physiological aspects | Tumor suppressor genes | Genetic aspects | Research | Magnesium in the body | Biological Sciences
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 08/2016, Volume 24, Issue 9, pp. 1274 - 1279
Whole-exome sequencing allows for an unbiased and comprehensive mutation screening. Although successfully used to facilitate the diagnosis of single-gene... 
EXOME | SECONDARY HYPOCALCEMIA | FAMILIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | DISORDERS | MUTATIONS | TRPM6 | THYROGLOBULIN GENE | DISCOVERY | GENOME | HYPOMAGNESEMIA | Intestinal Diseases - complications | Lipid Metabolism, Inborn Errors - genetics | Lipoproteins - genetics | Humans | Hypothyroidism - complications | Male | Magnesium Deficiency - diagnosis | Young Adult | Magnesium Deficiency - genetics | Magnesium Deficiency - complications | RNA Splicing | Female | Hypothyroidism - genetics | Phytosterols - adverse effects | Lipid Metabolism, Inborn Errors - diagnosis | Intestinal Diseases - genetics | Hypothyroidism - diagnosis | Phytosterols - genetics | Intestinal Diseases - diagnosis | Phenotype | Pedigree | Adolescent | Hypercholesterolemia - diagnosis | Thyroglobulin - genetics | TRPM Cation Channels - genetics | Hypercholesterolemia - complications | Consanguinity | Hypercholesterolemia - genetics | Lipid Metabolism, Inborn Errors - complications | Mutation | ATP Binding Cassette Transporter, Sub-Family G, Member 5 - genetics | Alternative splicing | Pediatrics | Phenotypes | Congenital diseases | Internal medicine | Genomes | Thyroid gland | Sitosterolemia | Hypothyroidism | Patients | Medicine | Transient receptor potential proteins | Hypercholesterolemia | Sterols | Thyroglobulin | Atherosclerosis | Genetics | Magnesium | Diagnosis | Bioinformatics | Hypomagnesemia | Genotypes
Journal Article
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 2005, Volume 16, Issue 3, pp. 729 - 745
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2017, Volume 18, Issue 1, pp. 121 - 6
Background: Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with... 
Sensorineural | Case report | HDR syndrome | Hypoparathyroidism | DFNX2 | GATA3 gene | Renal anomalies | Hearing loss | CELLS | DNA-BINDING | DOMAIN | SENSORINEURAL DEAFNESS | SYNDROME HYPOPARATHYROIDISM | POU3F4 | GENETICS & HEREDITY | DYSPLASIA SYNDROME | TRANSCRIPTION FACTOR | GATA3 Transcription Factor - genetics | Frameshift Mutation | Humans | Hypoparathyroidism - physiopathology | Infant | Male | Tomography, X-Ray Computed | Hypoparathyroidism - genetics | Hypoparathyroidism - surgery | Hypoparathyroidism - diagnosis | Hearing Loss, Sensorineural - diagnosis | Nephrosis - diagnosis | Genetic Diseases, X-Linked - genetics | Genetic Diseases, X-Linked - physiopathology | Diagnosis, Differential | Gene Expression | Chromosomes, Human, Pair 10 - chemistry | Hearing Loss, Sensorineural - genetics | Nephrosis - genetics | Hearing Loss, Conductive - physiopathology | Genetic Diseases, X-Linked - diagnosis | Haploinsufficiency | Hearing Loss, Conductive - diagnosis | Cochlear Implantation | Nephrosis - physiopathology | Nephrosis - surgery | Hearing Loss, Conductive - genetics | Heterozygote | Hearing Loss, Sensorineural - surgery | Hearing Loss, Sensorineural - physiopathology | Case studies | Genetic disorders | Research | Diagnosis | Gene mutations | Transcription factors | Nuclear magnetic resonance--NMR | Genes | Gene deletion | Genetic screening | Mimicry | Clonal deletion | Computed tomography | Genetic analysis | Chromosome 10 | Tomography | Bones | Differential diagnosis | Hypocalcemia | Seizures | Cochlear implants | Deafness | Congenital diseases | Temporal bone | Dietary supplements | Breast cancer | Hearing impairment | GATA-3 protein | Cochlea | Ears & hearing | Mutation | Kidney diseases
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, p. e59762
Journal Article
Human Genetics, ISSN 0340-6717, 07/2017, Volume 136, Issue 7, pp. 835 - 845
Journal Article
Journal Article