{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T11:51:58Z","timestamp":1783338718357,"version":"3.54.6"},"reference-count":75,"publisher":"Georg Thieme Verlag KG","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Clin Endocrinol Diabetes"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The PTH\/PTHrP receptor (PTHR1) mediates the actions of parathyroid hormone (PTH) and PTH-related peptide (PTHrP) by coupling this G protein-coupled receptor (GPCR) to the alpha-subunit of the heterotrimeric stimulatory G protein (Gs\u03b1) and thereby to the formation of cAMP. In growth plates, PTHrP-dependent activation of the cAMP\/PKA second messenger pathway prevents the premature differentiation of chondrocytes into hypertrophic cells resulting in delayed growth plate closure. Heterozygous mutations in GNAS, the gene encoding Gs\u03b1, lead to a reduction in cAMP levels in growth plate chondrocytes that is sufficient to cause shortening of metacarpals and\/or -tarsals, i.\u2009e. typical skeletal aspects of Albright\u2019s Hereditary Osteodystrophy (AHO). However, heterozygous mutations in other genes, including those encoding PTHrP, PRKAR1A, PDE4D, and PDE3A, can lead to similar or even more pronounced acceleration of skeletal maturation that is particularly obvious in hands and feet, and reduces final adult height. Genetic mutations other than those resulting in Gs\u03b1 haploinsufficiency thus reduce intracellular cAMP levels in growth plate chondrocytes to a similar extent and thereby accelerate skeletal maturation.<\/jats:p>","DOI":"10.1055\/a-1047-0334","type":"journal-article","created":{"date-parts":[[2019,12,20]],"date-time":"2019-12-20T14:05:05Z","timestamp":1576850705000},"page":"681-686","source":"Crossref","is-referenced-by-count":3,"title":["Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause"],"prefix":"10.1055","volume":"128","author":[{"given":"Monica","family":"Reyes","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Silve","sequence":"additional","affiliation":[{"name":"INSERM \u00e9quipe \u201cG\u00e9nomiques et \u00e9pig\u00e9n\u00e9tique des tumeurs rares\u201d, Institut Cochin, Paris, France"},{"name":"Centre de Re\u0301fe\u0301rence des Maladies rares du Calcium et du Phosphore and Filie\u0300re de Sante\u0301 Maladies Rares OSCAR, AP-HP, Paris, France"},{"name":"Service de Biochimie et Ge\u0301ne\u0301tique Mole\u0301culaires, Ho\u0302pital Cochin, AP- HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"J\u00fcppner","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA"},{"name":"Pediatric Nephrology Unit, MassGeneral Hospital for Children Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2019,12,11]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1196\/annals.1402.088","article-title":"Progress, paradox, and potential: Parathyroid hormone research over five decades","volume":"1117","author":"J T Jr. Potts","year":"2007","journal-title":"Ann NY Acad Sci"},{"key":"ref2","first-page":"45","volume-title":"Parathyroid hormone-related protein: Gene structure, biosynthesis, metabolism and regulation","author":"L J Suva","year":"2015"},{"key":"ref3","first-page":"1038","volume-title":"Endocrinology","author":"C Maes","year":"2016"},{"key":"ref4","first-page":"969","volume-title":"Endocrinology","author":"T J Gardella","year":"2016"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/jbm4.10021","article-title":"Parathyroid hormone signaling in osteocytes","volume":"2","author":"M N Wein","year":"2018","journal-title":"JBMR Plus"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.tem.2019.01.009","article-title":"Salt-inducible kinases: Physiology, regulation by cAMP, and therapeutic potential: (Trends Endocrinol. 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