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Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1

Journal of endocrinological investigation, 2024-05

2024

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25 Hydroxyvitamin D 1 α-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis

Journal of investigative dermatology, 2004-04, Vol.122 (4), p.984-992

2004

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Integrin-linked kinase has a critical role in ErbB2 mammary tumor progression: implications for human breast cancer

Oncogene, 2010-06, Vol.29 (23), p.3374-3385

2010

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Targeted inactivation of vitamin D hydroxylases in mice

Bone (New York, N.Y.), 1999-07, Vol.25 (1), p.127-129

St-Arnaud, R

1999

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A dynamic programming methodology to develop de-icing strategies during ice storms by channeling load currents in transmission networks

IEEE transactions on power delivery, 2005-04, Vol.20 (2), p.1604-1610

2005

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IEEE_Xplore

Differential mechanisms of transcriptional regulation of the mouse osteocalcin gene by Jun family members

Calcified tissue international, 2007-02, Vol.80 (2), p.123-131

2007

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The Alpha Chain of the Nascent Polypeptide-Associated Complex Functions as a Transcriptional Coactivator

Molecular and Cellular Biology, 1998-03, Vol.18 (3), p.1303-1311

1998

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Integrin-linked kinase regulates cell proliferation and tumour growth in murine colitis-associated carcinogenesis

Gut, 2008-07, Vol.57 (7), p.931-940

2008

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Correction of the abnormal mineral ion homeostasis with a high-calcium, high-phosphorus, high-lactose diet rescues the PDDR phenotype of mice deficient for the 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1)

Bone (New York, N.Y.), 2003-04, Vol.32 (4), p.332-340

2003

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Premature aging-like phenotype in fibroblast growth factor 23 null mice is a vitamin D-mediated process

The FASEB journal, 2006-04, Vol.20 (6), p.720-722

2006

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Hepatic posttranscriptional network comprised of CCR4–NOT deadenylase and FGF21 maintains systemic metabolic homeostasis

Proceedings of the National Academy of Sciences - PNAS, 2019-04, Vol.116 (16), p.7973-7981

2019

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59 CARTILAGE-SPECIFIC DELETION OF PPAR-GAMMA IN MICE RESULTS IN EARLY ENDOCHONDRAL OSSIFICATION DEFECTS AND ACCELERATED AGING-DEPENDENT DEVELOPMENT OF OSTEOARTHRITIS

Osteoarthritis and cartilage, 2011-09, Vol.19, p.S33-S33

2011

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Conditional Knock-out of Integrin-linked Kinase Demonstrates an Essential Role in Protein Kinase B/Akt Activation

The Journal of biological chemistry, 2003-06, Vol.278 (25), p.22374-22378

2003

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Cloning of rat amelotin and localization of the protein to the basal lamina of maturation stage ameloblasts and junctional epithelium

Biochemical journal, 2006-10, Vol.399 (1), p.37-46

2006

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Reduced Chondrocyte Proliferation and Chondrodysplasia in Mice Lacking the Integrin-Linked Kinase in Chondrocytes

The Journal of cell biology, 2003-07, Vol.162 (1), p.139-148

2003

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Integrin-Linked Kinase Deletion from Mouse Cortex Results in Cortical Lamination Defects Resembling Cobblestone Lissencephaly

The Journal of neuroscience, 2005-07, Vol.25 (30), p.7022-7031

2005

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Altered Pharmacokinetics of 1α,25-Dihydroxyvitamin D 3 and 25-Hydroxyvitamin D 3 in the Blood and Tissues of the 25-Hydroxyvitamin D-24-Hydroxylase ( Cyp24a1 ) Null Mouse

Endocrinology (Philadelphia), 2005-02, Vol.146 (2), p.825-834

2005

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1α,24(S)(OH)2D2 normalizes bone morphology and serum parathyroid hormone without hypercalcemia in 25-hydroxyvitamin D-1-hydroxylase (CYP27B1)-deficient mice, an animal model of vitamin D deficiency with secondary hyperparathyroidism

Journal of endocrinological investigation, 2008-08, Vol.31 (8), p.711-717

2008

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Characterizing the BMP pathway in a wild type mouse model of distraction osteogenesis

Bone (New York, N.Y.), 2008-06, Vol.42 (6), p.1144-1153

2008

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Increased Expression of the c-fos Proto-Oncogene in Bone from Patients with Fibrous Dysplasia

The New England journal of medicine, 1995-06, Vol.332 (23), p.1546-1551

1995

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24,25-Dihydroxyvitamin D--active metabolite or inactive catabolite?

Endocrinology (Philadelphia), 1998-08, Vol.139 (8), p.3371-3374

1998

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Integrin-Linked Kinase Regulates Endothelial Cell Survival and Vascular Development

Molecular and Cellular Biology, 2004-09, Vol.24 (18), p.8134-8144

2004

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Strategies for rescuing plasmid DNA from yeast two-hybrid colonies

Methods in molecular biology (Clifton, N.J.), 2001, Vol.177, p.107

2001

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A composite element binding the vitamin D receptor, retinoid X receptor alpha, and a member of the CTF/NF-1 family of transcription factors mediates the vitamin D responsiveness of the c-fos promoter

Molecular and Cellular Biology, 1996-02, Vol.16 (2), p.584-592

1996

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FGF-23, vitamin D and calcification: the unholy triad

Nephrology, dialysis, transplantation, 2005-10, Vol.20 (10), p.2032-2035

2005

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Infantile hypercalcemia type 1 (HCINF1): a rare disease resulting in nephrolithiasis and nephrocalcinosis caused by mutations in the vitamin D catabolic enzyme, CYP24A1

25 Hydroxyvitamin D 1 α-Hydroxylase Is Required for Optimal Epidermal Differentiation and Permeability Barrier Homeostasis

Integrin-linked kinase has a critical role in ErbB2 mammary tumor progression: implications for human breast cancer

Targeted inactivation of vitamin D hydroxylases in mice

A dynamic programming methodology to develop de-icing strategies during ice storms by channeling load currents in transmission networks

Differential mechanisms of transcriptional regulation of the mouse osteocalcin gene by Jun family members

The Alpha Chain of the Nascent Polypeptide-Associated Complex Functions as a Transcriptional Coactivator

Integrin-linked kinase regulates cell proliferation and tumour growth in murine colitis-associated carcinogenesis

Correction of the abnormal mineral ion homeostasis with a high-calcium, high-phosphorus, high-lactose diet rescues the PDDR phenotype of mice deficient for the 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1)

Premature aging-like phenotype in fibroblast growth factor 23 null mice is a vitamin D-mediated process

Hepatic posttranscriptional network comprised of CCR4–NOT deadenylase and FGF21 maintains systemic metabolic homeostasis

59 CARTILAGE-SPECIFIC DELETION OF PPAR-GAMMA IN MICE RESULTS IN EARLY ENDOCHONDRAL OSSIFICATION DEFECTS AND ACCELERATED AGING-DEPENDENT DEVELOPMENT OF OSTEOARTHRITIS

Conditional Knock-out of Integrin-linked Kinase Demonstrates an Essential Role in Protein Kinase B/Akt Activation

Cloning of rat amelotin and localization of the protein to the basal lamina of maturation stage ameloblasts and junctional epithelium

Reduced Chondrocyte Proliferation and Chondrodysplasia in Mice Lacking the Integrin-Linked Kinase in Chondrocytes

Integrin-Linked Kinase Deletion from Mouse Cortex Results in Cortical Lamination Defects Resembling Cobblestone Lissencephaly

Altered Pharmacokinetics of 1α,25-Dihydroxyvitamin D 3 and 25-Hydroxyvitamin D 3 in the Blood and Tissues of the 25-Hydroxyvitamin D-24-Hydroxylase ( Cyp24a1 ) Null Mouse

1α,24(S)(OH)2D2 normalizes bone morphology and serum parathyroid hormone without hypercalcemia in 25-hydroxyvitamin D-1-hydroxylase (CYP27B1)-deficient mice, an animal model of vitamin D deficiency with secondary hyperparathyroidism

Characterizing the BMP pathway in a wild type mouse model of distraction osteogenesis

Increased Expression of the c-fos Proto-Oncogene in Bone from Patients with Fibrous Dysplasia

24,25-Dihydroxyvitamin D--active metabolite or inactive catabolite?

Integrin-Linked Kinase Regulates Endothelial Cell Survival and Vascular Development

Strategies for rescuing plasmid DNA from yeast two-hybrid colonies

A composite element binding the vitamin D receptor, retinoid X receptor alpha, and a member of the CTF/NF-1 family of transcription factors mediates the vitamin D responsiveness of the c-fos promoter

FGF-23, vitamin D and calcification: the unholy triad

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