Search Results - "BERGWITZ, C"

Dietary phosphate modifies lifespan in Drosophila by BERGWITZ, Clemens

“…Phosphate is required for many important cellular processes and having too little phosphate (hypophosphatemia) or too much (hyperphosphatemia) can cause…”
Get full text

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred by Yu, Y, Sanderson, S.R, Reyes, M, Sharma, A, Dunbar, N, Srivastava, T, Jüppner, H, Bergwitz, C

“…Abstract Homozygous and compound heterozygous mutations in SLC34A3 , the gene encoding the sodium-dependent co-transporter NaPi-IIc, cause hereditary…”
Get full text

Corrigendum to “Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: Long-term follow-up in one kindred” [Bone 50 (2012) 1100–1106] by Yu, Y, Sanderson, S.R, Reyes, M, Sharma, A, Dunbar, N, Srivastava, T, Jüppner, H, Bergwitz, C

Get full text

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications by Kremke, B, Bergwitz, C, Ahrens, W, Schütt, S, Schumacher, M, Wagner, V, Holterhus, P-M, Jüppner, H, Hiort, O

“…Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is caused by mutations in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter…”
Get more information

A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous α1-Antitrypsin deficiency by BERGWITZ, C, BRABANT, G, TRAUTWEIN, C, MANNS, M. P

Get full text

A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous alpha1-antitrypsin deficiency by Bergwitz, C, Brabant, G, Trautwein, C, Manns, M P

“…This report describes a 60-yr-old white male presenting with decompensated liver cirrhosis. He had a history of Addison's disease for 36 yr, primary…”
Get full text

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene by Schipani, E, Weinstein, L S, Bergwitz, C, Iida-Klein, A, Kong, X F, Stuhrmann, M, Kruse, K, Whyte, M P, Murray, T, Schmidtke, J

“…Pseudohypoparathyroidism type Ib (PHP-Ib) is thought to be caused by a PTH/PTH-related peptide (PTHrP) receptor defect. To search for receptor mutations in…”
Get more information

Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia by Bergwitz, C., Prochnau, A., Mayr, B., Kramer, F.‐J., Rittierodt, M., Berten, H.‐L., Hausamen, J.‐E., Brabant, G.

“…Core binding factor A1 (CBFA1/RUNX2) is a runt‐like transcription factor essential for osteoblast differentiation. Haplotype insufficiency causes cleidocranial…”
Get full text

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis by Dasgupta, Debayan, Wee, Mark J, Reyes, Monica, Li, Yuwen, Simm, Peter J, Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew, Lazier, Joanna, Gessner, Michaela, Chrysis, Dionisios, Tuchman, Shamir, Baluarte, H Jorge, Levine, Michael A, Tiosano, Dov, Insogna, Karl, Hanley, David A, Carpenter, Thomas O, Ichikawa, Shoji, Hoppe, Bernd, Konrad, Martin, Sävendahl, Lars, Munns, Craig F, Lee, Hang, Jüppner, Harald, Bergwitz, Clemens

“…Compound heterozygous and homozygous (comp/hom) mutations in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium (Na(+))-dependent…”
Get full text

Familial isolated parathyroid adenoma in a consanguineous family by BERQWITZ, C, BREMER, B, SOUDAH, B, MAYR, B, BRABANT, G

“…The 23-year-old Caucasian male propositus presented with symptomatic hypercalcemia, hypophosphatemia and normocalciuria for 2 months. His 29-year-old brother…”
Get full text

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis by Bergwitz, Clemens, Roslin, Nicole M, Tieder, Martin, Loredo-Osti, J C, Bastepe, Murat, Abu-Zahra, Hilal, Frappier, Danielle, Burkett, Kelly, Carpenter, Thomas O, Anderson, Donald, Garabedian, Michele, Sermet, Isabelle, Fujiwara, T Mary, Morgan, Kenneth, Tenenhouse, Harriet S, Juppner, Harald

“…Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare disorder of autosomal recessive inheritance that was first described in a large…”
Get full text

A versatile chondrogenic rat calvaria cell line R-tTA-24 that permits tetracycline-regulated gene expression by Bergwitz, C, Wendlandt, T, Pötter, E, Glomb, I, Gras, K, von zur Mühlen, A, Brabant, G

“…The clonal rat calvaria cell line RCJ3.1C5.18 (RCJ) undergoes chondrogenic differentiation after long-term culture post confluence. To allow flexible genetic…”
Get full text

Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors by Uveges, Thomas E, Collin‐Osdoby, Patricia, Cabral, Wayne A, Ledgard, Felicia, Goldberg, Leah, Bergwitz, Clemens, Forlino, Antonella, Osdoby, Philip, Gronowicz, Gloria A, Marini, Joan C

“…The Brtl mouse, a knock‐in model for moderately severe osteogenesis imperfecta (OI), has a G349C substitution in half of type I collagen α1(I) chains. We…”
Get full text

Polymorphism in exon M7 of the PTHR gene by Schipani, E, Hustmyer, F G, Bergwitz, C, Jüppner, H

Get more information

Brittle IV Mouse Model for Osteogenesis Imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength by Kozloff, Kenneth M, Carden, Angela, Bergwitz, Clemens, Forlino, Antonella, Uveges, Thomas E, Morris, Michael D, Marini, Joan C, Goldstein, Steven A

“…The Brtl mouse model for type IV osteogenesis imperfecta improves its whole bone strength and stiffness between 2 and 6 months of age. This adaptation is…”
Get full text

The Cadherin-Catenin System: Implications for Growth and Differentiation of Endocrine Tissues by Potter, E.

Get full text

Wnts differentially regulate colony growth and differentiation of chondrogenic rat calvaria cells by Bergwitz, Clemens, Wendlandt, Thomas, Kispert, Andreas, Brabant, Georg

“…The wingless- and int-related proteins (Wnts) have an important role during embryonic development and limb patterning. To investigate their function during…”
Get full text

Full activation of chimeric receptors by hybrids between parathyroid hormone and calcitonin. Evidence for a common pattern of ligand-receptor interaction by Bergwitz, C, Gardella, T J, Flannery, M R, Potts, Jr, J T, Kronenberg, H M, Goldring, S R, Jüppner, H

“…Calcitonin (CT) and parathyroid hormone (PTH), whose receptors belong to the same family of G protein-coupled receptors, share no amino acid sequence homology…”
Get full text

A Patient With Autoimmune Hepatitis Type I, Addison's Disease, Atrophic Thyroiditis, Atrophic Gastritis, Exocrine Pancreatic Insufficiency, and Heterozygous α1-Antitrypsin Deficiency by Bergwitz, C, Brabant, G, Trautwein, C, Manns, M P

“…This report describes a 60-yr-old white male presenting with decompensated liver cirrhosis. He had a history of Addison's disease for 36 yr, primary…”
Get full text

A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous a sub(1)-antitrypsin deficiency by Bergwitz, C, Brabant, G, Trautwein, C, Manns, M P

“…This report describes a 60-yr-old white male presenting with decompensated liver cirrhosis. He had a history of Addison's disease for 36 yr, primary…”
Get full text