Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1571) 1571
Publication (145) 145
Book Chapter (57) 57
Newsletter (37) 37
Book Review (11) 11
Conference Proceeding (5) 5
Book / eBook (1) 1
Data Set (1) 1
Dissertation (1) 1
Magazine Article (1) 1
Newspaper Article (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (1071) 1071
hypocalcemia (691) 691
female (652) 652
index medicus (611) 611
male (573) 573
animals (408) 408
endocrinology & metabolism (278) 278
hypocalcemia - genetics (270) 270
adult (268) 268
calcium (256) 256
mutation (247) 247
parathyroid hormone (229) 229
hypocalcemia - etiology (221) 221
hypoparathyroidism (221) 221
child (218) 218
pediatrics (204) 204
calcium - metabolism (194) 194
infant (183) 183
infant, newborn (182) 182
secondary hypocalcemia (181) 181
adolescent (172) 172
vitamin d (169) 169
middle aged (163) 163
calcium - blood (161) 161
calcium-sensing receptor (158) 158
child, preschool (147) 147
receptors, calcium-sensing - genetics (146) 146
homeostasis (141) 141
hypocalcemia - complications (139) 139
research (130) 130
autosomal-dominant hypocalcemia (125) 125
hypomagnesemia (123) 123
hypocalcemia - diagnosis (118) 118
hypoparathyroidism - genetics (116) 116
mice (115) 115
pregnancy (115) 115
familial hypocalciuric hypercalcemia (113) 113
genetic aspects (111) 111
pedigree (110) 110
gene (106) 106
mutations (105) 105
magnesium (104) 104
magnesium - metabolism (103) 103
neonatal severe hyperparathyroidism (101) 101
parathyroid hormone - blood (101) 101
children (100) 100
aged (94) 94
diagnosis (94) 94
hypocalcaemia (93) 93
medicine, general & internal (93) 93
urology & nephrology (93) 93
medicine & public health (92) 92
ca2+-sensing receptor (91) 91
hypocalcemia - drug therapy (90) 90
hypocalcemia - metabolism (90) 90
risk factors (90) 90
phenotype (89) 89
hypercalcemia (88) 88
chromosome deletion (86) 86
physiological aspects (86) 86
expression (83) 83
genetics & heredity (83) 83
parathyroid-hormone (81) 81
trpm cation channels - genetics (80) 80
medicine (79) 79
patients (77) 77
biochemistry & molecular biology (76) 76
care and treatment (76) 76
hyperparathyroidism (76) 76
metabolism (76) 76
physiology (76) 76
rats (75) 75
article (74) 74
hypercalcemia - genetics (72) 72
analysis (71) 71
cattle (71) 71
parathyroid (71) 71
hypocalcemia - blood (69) 69
health aspects (67) 67
magnesium - blood (67) 67
abridged index medicus (66) 66
hypoparathyroidism - complications (66) 66
research article (66) 66
receptors, calcium-sensing - metabolism (65) 65
multidisciplinary sciences (64) 64
surgery (64) 64
rickets (63) 63
digeorge syndrome - genetics (62) 62
hypocalcemia - physiopathology (62) 62
kidney - metabolism (62) 62
syndrome (61) 61
diagnosis, differential (60) 60
molecular sequence data (60) 60
pseudohypoparathyroidism (60) 60
alfacalcidol (59) 59
disease (59) 59
genetics (58) 58
trpm cation channels - metabolism (58) 58
cell biology (57) 57
calcium - urine (56) 56
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1537) 1537
French (35) 35
Japanese (26) 26
German (15) 15
Spanish (10) 10
Russian (6) 6
Italian (4) 4
Portuguese (4) 4
Korean (3) 3
Chinese (2) 2
Danish (2) 2
Dutch (2) 2
Polish (2) 2
Arabic (1) 1
Finnish (1) 1
Hebrew (1) 1
Hungarian (1) 1
Norwegian (1) 1
Romanian (1) 1
Swedish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
by Unger, Sheila and Górna, Maria W and Le Béchec, Antony and Do Vale-Pereira, Sonia and Bedeschi, Maria Francesca and Geiberger, Stefan and Grigelioniene, Giedre and Horemuzova, Eva and Lalatta, Faustina and Lausch, Ekkehart and Magnani, Cinzia and Nampoothiri, Sheela and Nishimura, Gen and Petrella, Duccio and Rojas-Ringeling, Francisca and Utsunomiya, Akari and Zabel, Bernhard and Pradervand, Sylvain and Harshman, Keith and Campos-Xavier, Belinda and Bonafé, Luisa and Superti-Furga, Giulio and Superti-Furga, Andrea and Stevenson, Brian
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 990 - 995
Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS) are genetic conditions characterized by impaired skeletal development... 
GENETIC-VARIATION | STENOSIS | SON | MOTHER | GENETICS & HEREDITY | KENNY SYNDROME | OSTEOCRANIOSTENOSIS | PARATHYROID-HORMONE | TUBULAR BONES | Abnormalities, Multiple - pathology | Bone Diseases, Developmental - mortality | Humans | Infant | Male | Hypoparathyroidism - genetics | Abnormalities, Multiple - mortality | Bone Diseases, Developmental - genetics | Mutation, Missense | Receptors, Virus - genetics | Parathyroid Hormone - deficiency | Craniofacial Abnormalities - mortality | Bone Diseases, Developmental - pathology | Hypoparathyroidism - diagnostic imaging | Hypoparathyroidism - mortality | Adult | Craniofacial Abnormalities - pathology | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Infant, Newborn | Hyperostosis, Cortical, Congenital - diagnostic imaging | Genetic Association Studies | Abnormalities, Multiple - diagnostic imaging | Hyperostosis, Cortical, Congenital - genetics | Dwarfism - mortality | Radiography | Dwarfism - genetics | Adolescent | Hypocalcemia - genetics | Heterozygote | Dwarfism - diagnostic imaging | Hypocalcemia - mortality | Hypocalcemia - diagnostic imaging | Hyperostosis, Cortical, Congenital - mortality | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Mammalian MagT1 and TUSC3 Are Required for Cellular Magnesium Uptake and Vertebrate Embryonic Development
by Hao Zhou and David E. Clapham
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
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Serotonin Regulates Calcium Homeostasis in Lactation by Epigenetic Activation of Hedgehog Signaling
by Laporta, Jimena and Keil, Kimberly P and Weaver, Samantha R and Cronick, Callyssa M and Prichard, Austin P and Crenshaw, Thomas D and Heyne, Galen W and Vezina, Chad M and Lipinski, Robert J and Hernandez, Laura L
Molecular Endocrinology, ISSN 0888-8809, 11/2014, Volume 28, Issue 11, pp. 1866 - 1874
Calcium homeostasis during lactation is critical for maternal and neonatal health. We previously showed that nonneuronal/peripheral serotonin... 
SHH EXPRESSION | HORMONE-RELATED PROTEIN | MAMMARY-GLAND DEVELOPMENT | CRANIOFACIAL MORPHOGENESIS | BONE METABOLISM | ENDOCRINOLOGY & METABOLISM | SUBCLINICAL HYPOCALCEMIA | RECEPTOR | DIFFERENTIATION | REUPTAKE INHIBITOR | PREGNANCY | Serotonin - genetics | Calcium - metabolism | Mice, Inbred C57BL | Parathyroid Hormone-Related Protein - genetics | Hedgehog Proteins - metabolism | DNA Methylation - genetics | Signal Transduction - genetics | Osteoclasts - metabolism | Parathyroid Hormone-Related Protein - metabolism | Promoter Regions, Genetic - genetics | Tryptophan Hydroxylase - genetics | Pregnancy | Animals | Hedgehog Proteins - genetics | Mammary Glands, Animal - metabolism | Epigenesis, Genetic - genetics | Serotonin - metabolism | Lactation - metabolism | Female | Mice | Homeostasis - genetics | Tryptophan Hydroxylase - metabolism | Fibroblasts - metabolism | Lactation - genetics | Original Research
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Against all odds: Blended phenotypes of three single-gene defects
by Li, Yong and Salfelder, Anika and Schwab, Karl Otfried and Grünert, Sarah Catharina and Velten, Tanja and Lütjohann, Dieter and Villavicencio-Lorini, Pablo and Matysiak-Scholze, Uta and Zabel, Bernhard and Köttgen, Anna and Lausch, Ekkehart
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
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Mg2+ Extrusion from Intestinal Epithelia by CNNM Proteins Is Essential for Gonadogenesis via AMPK-TORC1 Signaling in Caenorhabditis elegans
by Ishii, Tasuku and Funato, Yosuke and Hashizume, Osamu and Yamazaki, Daisuke and Hirata, Yusuke and Nishiwaki, Kiyoji and Kono, Nozomu and Arai, Hiroyuki and Miki, Hiroaki
PLoS Genetics, ISSN 1553-7390, 08/2016, Volume 12, Issue 8, p. e1006276
Mg2+ serves as an essential cofactor for numerous enzymes and its levels are tightly regulated by various Mg2+ transporters. Here, we analyzed Caenorhabditis... 
MAGNESIUM | SECONDARY HYPOCALCEMIA | HOMEOSTASIS | ENERGY | MEMBRANE | IN-VIVO | GENETICS & HEREDITY | CELL PROLIFERATION | GENE FAMILY | C-ELEGANS | HYPOMAGNESEMIA | Intestinal Mucosa - metabolism | Cyclins - genetics | Caenorhabditis elegans Proteins - metabolism | Multiprotein Complexes - genetics | Intestinal Mucosa - growth & development | Mechanistic Target of Rapamycin Complex 1 | Cyclins - biosynthesis | TOR Serine-Threonine Kinases - genetics | RNA Interference | Gonads - growth & development | Cation Transport Proteins - genetics | Germ Cells - metabolism | Protein-Serine-Threonine Kinases - metabolism | Multigene Family - genetics | Caenorhabditis elegans - growth & development | Caenorhabditis elegans - genetics | Protein-Serine-Threonine Kinases - genetics | Magnesium - metabolism | Signal Transduction - genetics | Germ Cells - growth & development | Longevity - genetics | Gonads - metabolism | Animals | Mutation | Caenorhabditis elegans Proteins - genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Genetic hypercalciuria
by Moe, Orson W and Bonny, Olivier
Journal of the American Society of Nephrology, ISSN 1046-6673, 2005, Volume 16, Issue 3, pp. 729 - 745
Hypercalciuria is an important, identifiable, and reversible risk factor in stone formation. The foremost and most fundamental step in dissecting the genetics... 
DEGENERATION WILSONS DISEASE | CALCIUM-SENSING RECEPTOR | GLYCOGEN-STORAGE-DISEASE | GLUCOSE-GALACTOSE MALABSORPTION | UROLOGY & NEPHROLOGY | VITAMIN-D-RECEPTOR | AUTOSOMAL-DOMINANT HYPOCALCEMIA | RENAL TUBULAR-ACIDOSIS | FAMILIAL ISOLATED HYPOPARATHYROIDISM | MCCUNE-ALBRIGHT-SYNDROME | SODIUM-PHOSPHATE COTRANSPORTER | Calcium Metabolism Disorders - genetics | Animals | Humans | Calcium Metabolism Disorders - physiopathology | Calcium - urine | Kidney Calculi - genetics | Kidney Calculi - physiopathology
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Diseases associated with calcium-sensing receptor
by Vahe, C and Benomar, K and Espiard, S and Coppin, L and Jannin, A and Odou, M.F and Vantyghem, M.C
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 01/2017, Volume 12, Issue 1, p. 19
The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium... 
CASR | Hypercalciuria | Hypercalcaemia | Hypocalciuria | Hypoparathyroidism | Calcilytics | Hyperparathyroidism | Hypocalcemia | Calcimimetics | MEDICINE, RESEARCH & EXPERIMENTAL | PRIMARY HYPERPARATHYROIDISM | PARATHYROID ADENOMA | PHENOTYPE | AUTOSOMAL-DOMINANT HYPOCALCEMIA | INACTIVATING MUTATION | IN-VITRO | CASR GENE | MOUSE MODEL | GENETICS & HEREDITY | FAMILIAL HYPOCALCIURIC HYPERCALCEMIA | EXPRESSION | Hyperparathyroidism - physiopathology | GTP-Binding Protein alpha Subunits - metabolism | Genetic Diseases, Inborn - blood | Genetic Diseases, Inborn - urine | Calcium - metabolism | Humans | Hypercalciuria - physiopathology | Genetic Diseases, Inborn - genetics | GTP-Binding Protein alpha Subunits - genetics | Receptors, Calcium-Sensing - metabolism | Calcium - blood | Hypercalciuria - blood | Animals | Hyperparathyroidism - genetics | Hypercalciuria - metabolism | Hyperparathyroidism - blood | Hypercalciuria - genetics | Receptors, Calcium-Sensing - genetics | Genetic Diseases, Inborn - physiopathology
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: A case report
by Yang, Aram and Kim, Jinsup and Ki, Chang-Seok and Hong, Sung Hwa and Cho, Sung Yoon and Jin, Dong-Kyu
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
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation in GNA11: Phenotypic and Molecular Characterization
by Li, Dong and Opas, Evan E and Tuluc, Florin and Metzger, Daniel L and Hou, Cuiping and Hakonarson, Hakon and Levine, Michael A
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 09/2014, Volume 99, Issue 9, pp. E1774 - E1783
Context: Most cases of autosomal dominant hypoparathyroidism (ADH) are caused by gain-of-function mutations in CASR or dominant inhibitor mutations in GCM2 or... 
ACTIVATION | PROTEIN | CALCIUM-SENSING RECEPTOR | ENDOCRINOLOGY & METABOLISM | PARATHYROID-HORMONE | JANSENS METAPHYSEAL CHONDRODYSPLASIA | HYPOCALCEMIA | FAMILIAL ISOLATED HYPOPARATHYROIDISM | SEQUENCING DATA | PEPTIDE | GENOME | Genome-Wide Association Study | Hypoparathyroidism - congenital | Humans | Middle Aged | Child, Preschool | Family Health | GTP-Binding Protein alpha Subunits - genetics | Male | Hypoparathyroidism - genetics | Germ-Line Mutation - genetics | Young Adult | Phenotype | Pedigree | Adolescent | Hypocalcemia - genetics | Adult | Female | Heterozygote | Hypercalciuria - genetics | Bone Development - genetics | Child | Advances in Genetics | JCEM Online
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Polymorphisms in the Calcium-Sensing Receptor Gene Are Associated with Clinical Outcome of Neuroblastoma
by Masvidal, Laia and Iniesta, Raquel and Casalà, Carla and Galván, Patricia and Rodríguez, Eva and Lavarino, Cinzia and Mora, Jaume and de Torres, Carmen
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, p. e59762
Background: Neuroblastic tumors include the neuroblastomas, ganglioneuroblastomas, and ganglioneuromas. Clinical behavior of these developmental malignancies... 
COLON-CANCER | NEONATAL SEVERE HYPERPARATHYROIDISM | COLORECTAL-CANCER | MULTIDISCIPLINARY SCIENCES | N-MYC | RISK | AUTOSOMAL-DOMINANT HYPOCALCEMIA | STOCHASTIC-EM ALGORITHM | COMMON VARIATION | FAMILIAL HYPOCALCIURIC HYPERCALCEMIA | CA2+-SENSING RECEPTOR | Haplotypes | Young Adult | Humans | Neuroblastoma - genetics | Adolescent | Adult | Female | Genotype | Male | Polymorphism, Genetic - genetics | Receptors, Calcium-Sensing - genetics | Neuroblastoma - pathology | Epigenetic inheritance | Patient outcomes | Genes | Genetic aspects | Cellular signal transduction | Metastasis | Neuroblastoma | Genetic polymorphisms | G protein-coupled receptors | Calcium | Laboratories | Homeostasis | Biology | Inactivation | Medical diagnosis | Biodiversity | Subgroups | Metastases | Confidence intervals | Bone marrow | Calcium homeostasis | Deoxyribonucleic acid--DNA | Statistical analysis | Aggressive behavior | Deactivation | Regression analysis | Gene expression | Patients | Loci | Genetic variance | Algorithms | Genotyping | Transduction | Mutation | Calcium-sensing receptors | Cancer | Tumors | Polymorphism | Deoxyribonucleic acid | Biological diversity | DNA
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism
by Pillar, Nir and Pleniceanu, Oren and Fang, Mingyan and Ziv, Limor and Lahav, Einat and Botchan, Shay and Cheng, Le and Dekel, Benjamin and Shomron, Noam
Human Genetics, ISSN 0340-6717, 07/2017, Volume 136, Issue 7, pp. 835 - 845
Isolated familial hypoparathyroidism is an extremely rare disorder, which to date has been linked to several loci including mutations in CASR, GCM2, and PTH,... 
SKELETAL-MUSCLE | HYPERTROPHIC CARDIOMYOPATHY | ZEBRAFISH | IDIOPATHIC HYPOPARATHYROIDISM | DISEASE | GENETICS & HEREDITY | FISHES | MYOPATHY | MUTATIONS | SEQUENCING DATA | IDENTIFICATION | Calcium - metabolism | Exons | Genomics | Humans | Male | Hypoparathyroidism - genetics | Intracellular Signaling Peptides and Proteins - metabolism | LIM Domain Proteins - metabolism | Hypoparathyroidism - diagnosis | HEK293 Cells | Muscle Proteins - metabolism | Female | Hypercalciuria - genetics | Intracellular Signaling Peptides and Proteins - genetics | Hypoparathyroidism - congenital | Zebrafish Proteins - metabolism | Hypercalciuria - diagnosis | Gene Expression Regulation | Zebrafish - genetics | Muscle Proteins - genetics | Animals | Pedigree | Hypocalcemia - genetics | Hypocalcemia - diagnosis | LIM Domain Proteins - genetics | Mutation | Zebrafish Proteins - genetics | Genetic aspects | Parathyroid hormone | Hypoparathyroidism | Genes | Cells | Corpuscles | Corpuscles of Stannius | Homeostasis | Bioinformatics | Calcium-sensing receptors | Hypocalcemia | Calcium homeostasis | Seizures | Original Investigation
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Basolateral Mg2+ Extrusion via CNNM4 Mediates Transcellular Mg2+ Transport across Epithelia: A Mouse Model
by Yamazaki, Daisuke and Funato, Yosuke and Miura, Jiro and Sato, Sunao and Toyosawa, Satoru and Furutani, Kazuharu and Kurachi, Yoshihisa and Omori, Yoshihiro and Furukawa, Takahisa and Tsuda, Tetsuya and Kuwabata, Susumu and Mizukami, Shin and Kikuchi, Kazuya and Miki, Hiroaki
PLoS Genetics, ISSN 1553-7390, 2013, Volume 9, Issue 12, p. e1003983
Transcellular Mg2+ transport across epithelia, involving both apical entry and basolateral extrusion, is essential for magnesium homeostasis, but molecules... 
AMELOGENESIS IMPERFECTA | SECONDARY HYPOCALCEMIA | PROTEIN | CONE-ROD DYSTROPHY | MAGNESIUM HOMEOSTASIS | GENETICS & HEREDITY | RENAL-FAILURE | GENE FAMILY | SLC41A1 | RETINITIS-PIGMENTOSA RP3 | MUTATIONS | Leber Congenital Amaurosis - pathology | Epithelium - metabolism | Humans | Retinitis Pigmentosa - genetics | Magnesium - metabolism | Leber Congenital Amaurosis - genetics | Amelogenesis Imperfecta - genetics | Mutation, Missense | Mice, Knockout | Animals | Hypertrichosis - genetics | Cation Transport Proteins - metabolism | Hypertrichosis - pathology | Cation Transport Proteins - genetics | Biological Transport - genetics | Mice | Amelogenesis Imperfecta - pathology | Retinitis Pigmentosa - pathology | Disease Models, Animal | Studies | Proteins | Medical research | Salmonella | Rodents | Homeostasis | Mutation | Experiments
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights