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The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2011, Volume 96, Issue 10, pp. 3020 - 3030
Context: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of... 
HORMONE-RELEASING-HORMONE | ALBRIGHT HEREDITARY OSTEODYSTROPHY | ENDOCRINOLOGY & METABOLISM | PROGRESSIVE OSSEOUS HETEROPLASIA | NUCLEOTIDE REGULATORY PROTEIN | STIMULATORY G-PROTEIN | GS-ALPHA-GENE | CYCLASE COUPLING PROTEIN | OSTEITIS-FIBROSA-CYSTICA | PEPTIDE RECEPTOR GENE | IMPRINTING CONTROL ELEMENT
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2014, Volume 29, Issue 11, pp. 2357 - 2368
Fibrous dysplasia of bone (FD) is a crippling skeletal disease associated with post zygotic mutations (R201C, R201H) of the gene encoding the α subunit of the... 
GNAS | GS‐ALPHA | FIBROUS DYSPLASIA | GENETIC SKELETAL DISEASES | MOUSE MODELS
Journal Article
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 09/2011, Volume 121, Issue 9, pp. 3492 - 3504
The heterotrimeric G protein subunit G(s)alpha stimulates cAMP-dependent signaling downstream of G protein-coupled receptors. In this study, we set out to... 
MEDICINE, RESEARCH & EXPERIMENTAL | OSTEOCYTES | BONE-FORMATION | PROTEIN-KINASE | GS-ALPHA | PARATHYROID-HORMONE | RECEPTOR | BETA-CATENIN | INTERMITTENT PTH | CELL-LINE | CHONDROCYTE DIFFERENTIATION
Journal Article
NATURE REVIEWS ENDOCRINOLOGY, ISSN 1759-5029, 06/2016, Volume 12, Issue 6, pp. 347 - 356
Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the alpha subunit of... 
PATERNAL UNIPARENTAL DISOMY | ALBRIGHT HEREDITARY OSTEODYSTROPHY | MENTAL-RETARDATION SYNDROME | ENDOCRINOLOGY & METABOLISM | PROGRESSIVE OSSEOUS HETEROPLASIA | IDENTIFIES PDE4D MUTATIONS | PARATHYROID-HORMONE RESISTANCE | STIMULATORY-G-PROTEIN | OSTEITIS-FIBROSA-CYSTICA | IMPRINTING CONTROL ELEMENT | GS-ALPHA GENE
Journal Article
Hypertension, ISSN 0194-911X, 03/2017, Volume 69, Issue 3, pp. 387 - 395
Although renin cells are crucial for blood pressure homeostasis, little is known about their nature. We now know that renin cells are precursors that appear... 
VASCULAR DEVELOPMENT | FETAL-DEVELOPMENT | RECRUITMENT | PROTEIN | MESSENGER-RNA | RAT-KIDNEY | JUXTAGLOMERULAR CELLS | GS-ALPHA | PERIPHERAL VASCULAR DISEASE | MICE | ANGIOTENSINOGEN GENE-EXPRESSION
Journal Article
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, ISSN 0027-8424, 01/2018, Volume 115, Issue 3, pp. E418 - E427
Fibrous dysplasia (FD; Online Mendelian Inheritance in Man no. 174800) is a crippling skeletal disease caused by activating mutations of the GNAS gene, which... 
McCune-Albright syndrome | HORMONE-RELATED PEPTIDE | MULTIDISCIPLINARY SCIENCES | GS-ALPHA | STIMULATORY G-PROTEIN | METAPHYSEAL CHONDRODYSPLASIA | LGK-974 | MESSENGER-RNAS | ENDOCHONDRAL BONE-DEVELOPMENT | Wnt/beta-catenin | Gnas | INDIAN-HEDGEHOG | PARATHYROID-HORMONE | fibrous dysplasia | ACTIVATING G(S)ALPHA MUTATION
Journal Article
HUMAN GENE THERAPY, ISSN 1043-0342, 09/2010, Volume 21, Issue 9, pp. 1057 - 1066
At the turn of a decade of intensive wishful thinking, "mesenchymal stem cells'' are changing their profile, while retaining their charm. As hopes to turn bone... 
PROGENITOR CELLS | MEDICINE, RESEARCH & EXPERIMENTAL | INTERNATIONAL-SOCIETY | GS-ALPHA | HEMATOPOIETIC MICROENVIRONMENT | MONOCLONAL-ANTIBODY | THERAPY POSITION STATEMENT | FIBROUS DYSPLASIA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | IN-VIVO | GENETICS & HEREDITY | OSTEOGENESIS IMPERFECTA | STROMAL CELLS
Journal Article
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, ISSN 0022-2828, 07/2019, Volume 132, pp. 49 - 59
Objective: Abdominal aortic aneurysm (AAA) is a life-threatening vascular disease without an effective pharmaceutical treatment. Genetic studies have proved... 
Phenotype switch | OXIDATIVE STRESS | ACTIVATION | CARDIAC & CARDIOVASCULAR SYSTEMS | HuR | PHENOTYPIC MODULATION | Abdominal aortic aneurysm | DOWN-REGULATION | ATHEROSCLEROSIS | ALPHA | KLF4 | Gs alpha | CELL BIOLOGY | G(S)ALPHA DEFICIENCY | MESSENGER-RNA | CELL | PROGRESSION
Journal Article
NEUROPSYCHOPHARMACOLOGY, ISSN 0893-133X, 06/2018, Volume 43, Issue 7, pp. 1481 - 1491
Current antidepressant therapies meet with variable therapeutic success and there is increasing interest in therapeutic approaches not based on monoamine... 
HETEROTRIMERIC G-PROTEINS | PSYCHIATRY | NEUROTROPHIC FACTOR | C6 GLIOMA-CELLS | ELEMENT-BINDING PROTEIN | SIGNALING COMPONENTS | ADENYLYL-CYCLASE ACTIVITY | PLASMA-MEMBRANE | NEUROSCIENCES | MICROTUBULE STABILITY | HISTONE-DEACETYLASE | INCREASED GS-ALPHA | PHARMACOLOGY & PHARMACY
Journal Article
Annals of Surgical Oncology, ISSN 1068-9265, 11/2013, Volume 20, Issue 12, pp. 3802 - 3808
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 03/2016, Volume 101, Issue 3, pp. 880 - 888
Context: Pseudohypoparathyroidism type 1A (PHP1A) is caused by loss-of-function mutations on the maternally inherited GNAS allele and is associated with... 
OBESE CHILDREN | NORMAL-WEIGHT | HORMONE RESISTANCE | ADOLESCENTS | ENDOCRINOLOGY & METABOLISM | BODY-MASS INDEX | PARENTAL ORIGIN | PREDICTION EQUATIONS | MUTATIONS | WHITE-CHILDREN | GS-ALPHA GENE | Body Composition | Energy Metabolism | Humans | Middle Aged | Adolescent | Child, Preschool | Adult | Female | Male | Pseudohypoparathyroidism - metabolism | Child | Original
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2011, Volume 364, Issue 23, pp. 2218 - 2226
Journal Article
JOURNAL OF BONE AND MINERAL RESEARCH, ISSN 0884-0431, 03/2014, Volume 29, Issue 3, pp. 749 - 760
Pseudohypoparathyroidism type-Ia (PHP-Ia), characterized by renal proximal tubular resistance to parathyroid hormone (PTH), results from maternal mutations of... 
RENAL | PSEUDOHYPOPARATHYROIDISM | CYCLIC | AMP | GS-ALPHA | TUBULE | SUBUNIT G(S)ALPHA | STIMULATORY G-PROTEIN | G(S)ALPHA GENE GNAS1 | STIMULATORY G PROTEIN | HORMONE | ALBRIGHT HEREDITARY OSTEODYSTROPHY | ADENYLYL-CYCLASE | PARATHYROID | MOUSE MODEL | ENDOCRINOLOGY & METABOLISM | GNAS | XL-ALPHA-S | PSEUDOHYPOPARATHYROIDISM TYPE IB | TRANSIENT PSEUDOHYPOPARATHYROIDISM | PROXIMAL | IMPRINTING
Journal Article
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, ISSN 0021-972X, 03/2007, Volume 92, Issue 3, pp. 1073 - 1079
Context: Obesity is a prominent feature of Albright hereditary osteodystrophy ( AHO), a disorder caused by heterozygous GNAS mutations that disrupt the... 
PSEUDO-HYPOPARATHYROIDISM | TARGETED DISRUPTION | HORMONE RESISTANCE | G(S)ALPHA KNOCKOUT MICE | ALBRIGHT HEREDITARY OSTEODYSTROPHY | ENDOCRINOLOGY & METABOLISM | PROGRESSIVE OSSEOUS HETEROPLASIA | SUBUNIT G(S)ALPHA | MUTATIONS | GNAS GENE | GS-ALPHA GENE
Journal Article
Nature Reviews Endocrinology, ISSN 1759-5029, 08/2018, Volume 14, Issue 8, pp. 476 - 500
Journal Article