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Journal of Bone and Mineral Research, ISSN 0884-0431, 06/2016, Volume 31, Issue 6, pp. 1207 - 1214
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia, inappropriately low serum parathyroid hormone concentrations and hypercalciuria. ADH is... 
Journal Article
by Taylor, Jenny C and Martin, Hilary C and Lise, Stefano and Broxholme, John and Cazier, Jean-Baptiste and Rimmer, Andy and Kanapin, Alexander and Lunter, Gerton and Fiddy, Simon and Allan, Chris and Aricescu, A. Radu and Attar, Moustafa and Babbs, Christian and Becq, Jennifer and Beeson, David and Bento, Celeste and Bignell, Patricia and Blair, Edward and Buckle, Veronica J and Bull, Katherine and Cais, Ondrej and Cario, Holger and Chapel, Helen and Copley, Richard R and Cornall, Richard and Craft, Jude and Dahan, Karin and Davenport, Emma E and Dendrou, Calliope and Devuyst, Olivier and Fenwick, Aimée L and Flint, Jonathan and Fugger, Lars and Gilbert, Rodney D and Goriely, Anne and Green, Angie and Greger, Ingo H and Grocock, Russell and Gruszczyk, Anja V and Hastings, Robert and Hatton, Edouard and Higgs, Doug and Hill, Adrian and Holmes, Chris and Howard, Malcolm and Hughes, Linda and Humburg, Peter and Johnson, David and Karpe, Fredrik and Kingsbury, Zoya and Kini, Usha and Knight, Julian C and Krohn, Jonathan and Lamble, Sarah and Langman, Craig and Lonie, Lorne and Luck, Joshua and McCarthy, Davis and McGowan, Simon J and McMullin, Mary Frances and Miller, Kerry A and Murray, Lisa and Németh, Andrea H and Nesbit, M. Andrew and Nutt, David and Ormondroyd, Elizabeth and Bang Oturai, Annette and Pagnamenta, Alistair and Patel, Smita Y and Percy, Melanie and Petousi, Nayia and Piazza, Paolo and Piret, Sian E and Polanco-Echeverry, Guadalupe and Popitsch, Niko and Powrie, Fiona and Pugh, Chris and Quek, Lynn and Robbins, Peter A and Robson, Kathryn and Russo, Alexandra and Sahgal, Natasha and Van Schouwenburg, Pauline A and Schuh, Anna and Silverman, Earl and Simmons, Alison and Sorensen, Per Soelberg and Sweeney, Elizabeth and Taylor, John and Thakker, Rajesh V and Tomlinson, Ian and Trebes, Amy and Twigg, Stephen R. F and Uhlig, Holm H and Vyas, Paresh and Vyse, Tim and Wall, Steven A and Watkins, Hugh and Whyte, Michael P and Witty, Lorna and ...
Nature Genetics, ISSN 1061-4036, 06/2015, Volume 47, Issue 7, pp. 717 - 726
Journal Article
JOURNAL OF BONE AND MINERAL RESEARCH, ISSN 0884-0431, 06/2016, Volume 31, Issue 6, pp. 1207 - 1214
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia, inappropriately low serum parathyroid hormone concentrations and hypercalciuria. ADH is... 
ACTIVATION | COMPLEX | MOUSE | DISORDERS | G-PROTEIN | KERATOCONUS | HYPERCALCIURIA | CALCIUM-SENSING RECEPTOR | GENE | WHOLE-EXOME SEQUENCING | HYPOPARATHYROIDISM | GNA11 | CALCIUM | ENDOCRINOLOGY & METABOLISM | TGFBI | Proteins | Genetic aspects | Cellular signal transduction | Parathyroid hormone | Hypocalcemia | Protein binding
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2016, Volume 11, Issue 12, pp. e0167916 - e0167916
Non-syndromic kyphosis is a common disorder that is associated with significant morbidity and has a strong genetic involvement; however, the causative genes... 
ETIOLOGY | MUTAGENESIS | SKELETAL GROWTH | GENE | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | VERTEBRAL SEGMENTATION | DYSPLASIA | DWARFISM | SCHEUERMANN-DISEASE | Bone Density | Kyphosis - metabolism | Spine - metabolism | Tibia - diagnostic imaging | Cercopithecus aethiops | Ethylnitrosourea - toxicity | Male | Glycosylation | Mutation, Missense | Kyphosis - genetics | MAP Kinase Signaling System | Spine - diagnostic imaging | Animals | Receptors, Atrial Natriuretic Factor - genetics | Female | Mice | Mice, Inbred BALB C | Protein Processing, Post-Translational | Tibia - metabolism | COS Cells | Kyphosis - pathology | Disease Models, Animal | Immunohistochemistry | Kyphosis | Care and treatment | Usage | Gene mutations | Analysis | Risk factors | Drinking water | Peptides | Spine | Signal transduction | Conserved sequence | Genetics | Physiology | Bone (endochondral) | C-Type natriuretic peptide | Deoxyribonucleic acid--DNA | Medical research | Vertebrae | Neuromuscular diseases | MAP kinase | Heredity | Metabolism | Radiography | Bone mineral content | Studies | Chondrocytes | Mutation | Endoplasmic reticulum | Endocrinology | Alkaline phosphatase | Recombination | Phosphorylation | Genes | Body length | Genomes | Activation | Kinases | Dwarfism | Missense mutation | Rodents | Elongation | Dual energy X-ray absorptiometry | Nucleotide sequence | Morbidity | Medicine | Progeny | Signaling | Ethyl nitrosourea | Protein kinase | Potash | Bone | Diabetes | Gene mapping | Females | Potassium | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 08/2013, Volume 8, Issue 8, pp. 1349 - 1357
Background and objectives Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by uromodulin (UMOD) gene mutations. This study... 
DYNAMICS | UROLOGY & NEPHROLOGY | TAMM-HORSFALL PROTEIN | UMOD MUTATIONS | DISORDERS | GENE MUTATION | FJHN | MCKD | TYPE-2 | EXPRESSION | JUVENILE HYPERURICEMIC NEPHROPATHY | Kidney Failure, Chronic - genetics | Phenotype | Humans | Middle Aged | Adult | Female | Genotype | Male | Aged | Mutation | Uromodulin - genetics | Original
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 07/2019, Volume 34, Issue 7, pp. 1324 - 1335
Journal Article
DMM Disease Models and Mechanisms, ISSN 1754-8403, 06/2017, Volume 10, Issue 6, pp. 773 - 786
Renal fibrosis is a common feature of renal failure resulting from multiple etiologies, including diabetic nephropathy, hypertension and inherited renal... 
ER stress | Mouse model | Endoplasmic reticulum | Kidney | Fibrosis | URINARY-TRACT-INFECTION | KIDNEY-DISEASE | UMOD GENE | JUVENILE HYPERURICAEMIC NEPHROPATHY | TAMM-HORSFALL PROTEIN | STONE FORMATION | PATHOLOGY | KNOCKOUT MICE | HUMAN UROMODULIN | CELL BIOLOGY | CALCIUM-SENSING RECEPTOR | THICK ASCENDING LIMB
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 03/2019, Volume 34, Issue 3, pp. 497 - 507
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, p. e55412
Journal Article