Autor: "Jüppner, Harald" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Altered Signaling and Desensitization Responses in PTH1R Mutants Associated with Eiken Syndrome.
Autorzy:: Portales-Castillo I; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Thier Research Building, 50 Blossom St, Boston, MA, 02114, USA.; Department of Medicine, Division of Nephrology, Massachusetts General Hospital, and Harvard Medical School, Thier Research Building, 50 Blossom St, Boston, MA, 02114, USA.; Department of Medicine, Division of Nephrology, Washington University in St. Louis, BJCIH Building, 425 South Euclid St, St. Louis, MO, 63110, USA.
Dean T; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Thier Research Building, 50 Blossom St, Boston, MA, 02114, USA.
Cheloha RW; Chemical Biology in Signaling Section, Laboratory of Bioorganic Chemistry, National Institutes of Diabetes and Digestive and Kidney Diseases, Building 8, 8 Center Drive, Bethesda, MD, 20891, USA.
Creemer BA; Chemical Biology in Signaling Section, Laboratory of Bioorganic Chemistry, National Institutes of Diabetes and Digestive and Kidney Diseases, Building 8, 8 Center Drive, Bethesda, MD, 20891, USA.
Vilardaga JP; Department of Pharmacology and Chemical Biology, School of Medicine, University of Pittsburgh, Thomas E. Starzl Biomedical Science Tower, 200 Lothrop St, Pittsburgh, PA, 15261, USA.
Savransky S; Department of Pharmacology and Chemical Biology, School of Medicine, University of Pittsburgh, Thomas E. Starzl Biomedical Science Tower, 200 Lothrop St, Pittsburgh, PA, 15261, USA.
Khatri A; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Thier Research Building, 50 Blossom St, Boston, MA, 02114, USA.
Jüppner H; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Thier Research Building, 50 Blossom St, Boston, MA, 02114, USA.; Pediatric Nephrology Unit, Massachusetts General Hospital, and Harvard Medical School, Thier Research Building, 50 Blossom St, Boston, MA, 02114, USA.
Gardella TJ; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Thier Research Building, 50 Blossom St, Boston, MA, 02114, USA. .; Pokaż więcej
Źródło:: Communications biology [Commun Biol] 2023 Jun 02; Vol. 6 (1), pp. 599. Date of Electronic Publication: 2023 Jun 02.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Parathyroid Hormone-Related Protein*/metabolism
Receptor, Parathyroid Hormone, Type 1*/genetics
Receptor, Parathyroid Hormone, Type 1*/chemistry
Receptor, Parathyroid Hormone, Type 1*/metabolism
Parathyroid Hormone/metabolism ; Signal Transduction/physiology ; Receptors, G-Protein-Coupled

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Skocz do pozycji: 2.

Tytuł:: Bartter Syndrome Type 1 Due to Novel SLC12A1 Mutations Associated With Pseudohypoparathyroidism Type II.
Autorzy:: Kiuchi Z; Department of Pediatrics, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.
Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.
Yan K; Department of Pediatrics, Kyorin University School of Medicine, Mitaka, Tokyo, Japan.; Department of Pediatrics, Kosei Hospital, Suginami, Tokyo, Japan.
Jüppner H; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Pokaż więcej
Źródło:: JCEM case reports [JCEM Case Rep] 2023 Feb 24; Vol. 1 (2), pp. luad019. Date of Electronic Publication: 2023 Feb 24 (Print Publication: 2023).
Typ publikacji:: Case Reports

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Skocz do pozycji: 3.

Tytuł:: Response of Npt2a knockout mice to dietary calcium and phosphorus.
Autorzy:: Li Y; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Department of Pediatrics, The First Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu Province, China.
Caballero D; Section Endocrinology, Yale University School of Medicine, New Haven, Connecticut, United States of America.
Ponsetto J; Section Endocrinology, Yale University School of Medicine, New Haven, Connecticut, United States of America.
Chen A; Section Endocrinology, Yale University School of Medicine, New Haven, Connecticut, United States of America.
Zhu C; Gastroenterology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Department of Infectious Diseases, The First Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu Province, China.
Guo J; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Demay M; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Jüppner H; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Bergwitz C; Section Endocrinology, Yale University School of Medicine, New Haven, Connecticut, United States of America.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2017 Apr 27; Vol. 12 (4), pp. e0176232. Date of Electronic Publication: 2017 Apr 27 (Print Publication: 2017).
Typ publikacji:: Journal Article
MeSH Terms:: Calcium, Dietary/*pharmacology
Phosphorus, Dietary/*pharmacology
Sodium-Phosphate Cotransporter Proteins, Type IIa/*deficiency
Sodium-Phosphate Cotransporter Proteins, Type IIa/*genetics
Animals ; Calcium/urine ; Calcium Phosphates/metabolism ; Female ; Fibroblast Growth Factor-23 ; Kidney/drug effects ; Kidney/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Minerals/metabolism ; Mutation ; Phosphates/blood

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Skocz do pozycji: 4.

Tytuł:: Osteocytic protein expression response to doxercalciferol therapy in pediatric dialysis patients.
Autorzy:: Pereira RC; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, United States of America.
Jüppner H; Endocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Gales B; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, United States of America.
Salusky IB; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, United States of America.
Wesseling-Perry K; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, United States of America.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2015 Mar 16; Vol. 10 (3), pp. e0120856. Date of Electronic Publication: 2015 Mar 16 (Print Publication: 2015).
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Bone Density Conservation Agents/*therapeutic use
Bone and Bones/*metabolism
Bone and Bones/*pathology
Ergocalciferols/*therapeutic use
Osteolysis/*drug therapy
Osteolysis/*genetics
Renal Dialysis/*adverse effects
Adaptor Proteins, Signal Transducing ; Adolescent ; Biopsy ; Bone Density Conservation Agents/pharmacology ; Bone Morphogenetic Proteins/genetics ; Bone Morphogenetic Proteins/metabolism ; Bone and Bones/drug effects ; Child ; Ergocalciferols/pharmacology ; Extracellular Matrix Proteins/genetics ; Extracellular Matrix Proteins/metabolism ; Female ; Fibroblast Growth Factor-23 ; Fibroblast Growth Factors/genetics ; Fibroblast Growth Factors/metabolism ; Gene Expression ; Genetic Markers/genetics ; Humans ; Kidney Failure, Chronic/complications ; Kidney Failure, Chronic/therapy ; Male ; Osteocytes/metabolism ; Osteolysis/blood ; Osteolysis/metabolism ; Phosphoproteins/genetics ; Phosphoproteins/metabolism ; Treatment Outcome

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Skocz do pozycji: 5.

Tytuł:: Hypoparathyroidism and central diabetes insipidus: in search of the link.
Autorzy:: Eyal O; Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children Hospital, Tel Aviv Sourasky Medical Center, 6 Weizmann St., 6423906, Tel Aviv, Israel, .
Oren A
Jüppner H
Somech R
De Bellis A
Mannstadt M
Szalat A
Bleiberg M
Weisman Y
Weintrob N; Pokaż więcej
Źródło:: European journal of pediatrics [Eur J Pediatr] 2014 Dec; Vol. 173 (12), pp. 1731-4. Date of Electronic Publication: 2014 Nov 04.
Typ publikacji:: Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:: Homozygote*
Mutation*
DNA/*genetics
Diabetes Insipidus, Neurogenic/*genetics
Hypoparathyroidism/*genetics
Transcription Factors/*genetics
Adolescent ; Child ; DNA Mutational Analysis ; Diabetes Insipidus, Neurogenic/blood ; Female ; Humans ; Hypoparathyroidism/blood ; Male ; Parathyroid Hormone/blood ; Pedigree ; Siblings ; Transcription Factors/blood ; AIRE Protein

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Skocz do pozycji: 6.

Tytuł:: Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.
Autorzy:: Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka, 565-0871, Japan.
Miyoshi Y
Namba N
Miura K
Kubota T
Ohata Y
Fujiwara M
Takagi M
Hasegawa T
Jüppner H
Ozono K; Pokaż więcej
Źródło:: European journal of pediatrics [Eur J Pediatr] 2014 Jun; Vol. 173 (6), pp. 799-804. Date of Electronic Publication: 2014 Jan 04.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:: Mutation*
Bone Density/*physiology
Collagen Type I/*genetics
Hyperostosis, Cortical, Congenital/*genetics
Absorptiometry, Photon ; Asian People ; Bone and Bones/diagnostic imaging ; Child, Preschool ; Collagen Type I, alpha 1 Chain ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Male ; Pedigree

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Skocz do pozycji: 7.

Tytuł:: FGF23 and mineral metabolism in the early post-renal transplantation period.
Autorzy:: Wesseling-Perry K; Department of Pediatrics, David Geffen School of Medicine at UCLA, A2-383 MDCC, 650 Charles Young Drive, Los Angeles, 90095, CA, USA, .
Pereira RC
Tsai E
Ettenger R
Jüppner H
Salusky IB; Pokaż więcej
Źródło:: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2013 Nov; Vol. 28 (11), pp. 2207-15. Date of Electronic Publication: 2013 Jul 15.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Kidney Transplantation*
Fibroblast Growth Factors/*metabolism
Minerals/*metabolism
Adolescent ; Blotting, Western ; Calcitriol/metabolism ; Calcium/metabolism ; Child ; Creatinine/metabolism ; Ergocalciferols/metabolism ; Female ; Fibroblast Growth Factor-23 ; Fibroblast Growth Factors/urine ; Humans ; Kidney Failure, Chronic/etiology ; Kidney Failure, Chronic/surgery ; Male ; Parathyroid Hormone/metabolism ; Phosphates/urine ; Phosphorus/metabolism ; Young Adult

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Skocz do pozycji: 8.

Tytuł:: Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.
Autorzy:: Korvala J; Oulu Center for Cell-Matrix Research, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland.
Jüppner H
Mäkitie O
Sochett E
Schnabel D
Mora S
Bartels CF
Warman ML
Deraska D
Cole WG
Hartikka H
Ala-Kokko L
Männikkö M; Pokaż więcej
Źródło:: BMC medical genetics [BMC Med Genet] 2012 Apr 10; Vol. 13, pp. 26. Date of Electronic Publication: 2012 Apr 10.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Wnt Signaling Pathway*
Low Density Lipoprotein Receptor-Related Protein-5/*genetics
Osteoporosis/*genetics
Wnt Proteins/*metabolism
Animals ; Bone Density/genetics ; CHO Cells ; Cricetinae ; Cricetulus ; Genes, Reporter ; Heterozygote ; Humans ; Low Density Lipoprotein Receptor-Related Protein-5/metabolism ; Mutation, Missense ; Osteogenesis Imperfecta/genetics ; Phenotype ; Real-Time Polymerase Chain Reaction ; Receptors, Serotonin/metabolism ; Serotonin/metabolism ; Transfection ; Tryptophan Hydroxylase/metabolism

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Skocz do pozycji: 9.

Tytuł:: Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy.
Autorzy:: Huso DL; Department of Molecular and Comparative Pathobiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
Edie S
Levine MA
Schwindinger W
Wang Y
Jüppner H
Germain-Lee EL; Pokaż więcej
Źródło:: PloS one [PLoS One] 2011; Vol. 6 (6), pp. e21755. Date of Electronic Publication: 2011 Jun 29.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Fibrous Dysplasia, Polyostotic/*complications
Ossification, Heterotopic/*complications
Animals ; Biomarkers/metabolism ; Chromogranins ; Disease Models, Animal ; Disease Progression ; Female ; GTP-Binding Protein alpha Subunits, Gs/deficiency ; GTP-Binding Protein alpha Subunits, Gs/metabolism ; Gene Expression Regulation ; Humans ; Male ; Mice ; Minerals/metabolism ; Ossification, Heterotopic/genetics ; Ossification, Heterotopic/metabolism ; Ossification, Heterotopic/pathology ; Osteoblasts/metabolism ; Pseudohypoparathyroidism ; Skin/pathology ; Time Factors

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Skocz do pozycji: 10.

Tytuł:: Response of different PTH assays to therapy with sevelamer or CaCO3 and active vitamin D sterols.
Autorzy:: Wesseling-Perry K; Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. />Harkins GC
Wang HJ
Sahney S
Gales B
Elashoff RM
Jüppner H
Salusky IB; Pokaż więcej
Źródło:: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2009 Jul; Vol. 24 (7), pp. 1355-61. Date of Electronic Publication: 2009 Mar 20.
Typ publikacji:: Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Calcium Carbonate/*administration & dosage
Chelating Agents/*administration & dosage
Immunoassay/*methods
Parathyroid Hormone/*blood
Polyamines/*administration & dosage
Vitamin D/*administration & dosage
Adolescent ; Adult ; Alkaline Phosphatase/blood ; Calcium/blood ; Child ; Child, Preschool ; Drug Therapy, Combination ; Female ; Humans ; Hyperparathyroidism, Secondary/blood ; Hyperparathyroidism, Secondary/drug therapy ; Male ; Phosphorus/blood ; Renal Dialysis ; Sevelamer

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Skocz do pozycji: 11.

Tytuł:: DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Autorzy:: Lorenz-Depiereux B; Institute of Human Genetics, GSF National Research Center for Environment and Health, 85764 Munich-Neuherberg, Germany.
Bastepe M
Benet-Pagès A
Amyere M
Wagenstaller J
Müller-Barth U
Badenhoop K
Kaiser SM
Rittmaster RS
Shlossberg AH
Olivares JL
Loris C
Ramos FJ
Glorieux F
Vikkula M
Jüppner H
Strom TM; Pokaż więcej
Źródło:: Nature genetics [Nat Genet] 2006 Nov; Vol. 38 (11), pp. 1248-50. Date of Electronic Publication: 2006 Oct 08.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Bone Matrix/*metabolism
Extracellular Matrix Proteins/*genetics
Hypophosphatemia/*genetics
Phosphates/*metabolism
Phosphoproteins/*genetics
Adolescent ; Adult ; Child ; Extracellular Matrix Proteins/metabolism ; Extracellular Matrix Proteins/physiology ; Fibroblast Growth Factor-23 ; Fibroblast Growth Factors/genetics ; Fibroblast Growth Factors/metabolism ; Homeostasis ; Humans ; Infant ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase/genetics ; PHEX Phosphate Regulating Neutral Endopeptidase/metabolism ; Pedigree ; Phosphoproteins/metabolism ; Phosphoproteins/physiology

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Skocz do pozycji: 12.

Tytuł:: Ollier disease.
Autorzy:: Silve C; INSERM U. 773, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, 75018 Paris, France. />Jüppner H; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2006 Sep 22; Vol. 1, pp. 37. Date of Electronic Publication: 2006 Sep 22.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Enchondromatosis/*pathology
Chondrosarcoma/etiology ; Chondrosarcoma/pathology ; Enchondromatosis/complications ; Enchondromatosis/genetics ; Humans ; Prognosis ; Risk Factors