144 related articles for article (PubMed ID: 25890446)
1. Acrodysostosis: A new form of pseudohypoparathyroidism?
Silve C
Ann Endocrinol (Paris); 2015 May; 76(2):110-2. PubMed ID: 25890446
[No Abstract] [Full Text] [Related]
2. PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A; Fryssira H; Hiort O; Holterhus PM; Perez de Nanclares G; Argente J; Heinrichs C; Kuechler A; Mantovani G; Leheup B; Wicart P; Chassot V; Schmidt D; Rubio-Cabezas Ó; Richter-Unruh A; Berrade S; Pereda A; Boros E; Muñoz-Calvo MT; Castori M; Gunes Y; Bertrand G; Bougnères P; Clauser E; Silve C
J Clin Endocrinol Metab; 2012 Dec; 97(12):E2328-38. PubMed ID: 23043190
[TBL] [Abstract][Full Text] [Related]
3. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.
Velasco HM; Ullah E; Martin AM; Hufnagel RB; Prada CE
Am J Med Genet A; 2020 Oct; 182(10):2214-2221. PubMed ID: 32783359
[TBL] [Abstract][Full Text] [Related]
4. [Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].
Silve C
Biol Aujourdhui; 2016; 210(3):167-170. PubMed ID: 27813477
[TBL] [Abstract][Full Text] [Related]
5. Acrodysostosis.
Silve C; Clauser E; Linglart A
Horm Metab Res; 2012 Sep; 44(10):749-58. PubMed ID: 22815067
[TBL] [Abstract][Full Text] [Related]
6. Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.
Mantovani G; Spada A; Elli FM
Nat Rev Endocrinol; 2016 Jun; 12(6):347-56. PubMed ID: 27109785
[TBL] [Abstract][Full Text] [Related]
7. Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report.
Kartalias K; Gillies AP; Peña MT; Estrada A; Bulas DI; Ferreira CR; Tosi LL
BMC Med Genet; 2020 Sep; 21(1):189. PubMed ID: 32993552
[TBL] [Abstract][Full Text] [Related]
8. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C; Le Goff C; Blair E; Blanchet P; Capri Y; Gilbert-Dussardier B; Goldenberg A; Henderson A; Isidor B; Kayserili H; Kinning E; Le Merrer M; Lyonnet S; Odent S; Simsek-Kiper PO; Quelin C; Savarirayan R; Simon M; Splitt M; Verhagen JMA; Verloes A; Munnich A; Baujat G; Cormier-Daire V
Eur J Hum Genet; 2018 Nov; 26(11):1611-1622. PubMed ID: 30006632
[TBL] [Abstract][Full Text] [Related]
9. The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.
Li N; Nie M; Li M; Jiang Y; Xing X; Wang O; Li C; Xia W
Int J Mol Sci; 2014 Jul; 15(8):13267-74. PubMed ID: 25075981
[TBL] [Abstract][Full Text] [Related]
10. Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.
Truelove A; Mulay A; Prapa M; Casey RT; Adler AI; Offiah AC; Poole KES; Trotman J; Al Hasso N; Park SM
Am J Med Genet A; 2019 Jul; 179(7):1330-1337. PubMed ID: 31041856
[TBL] [Abstract][Full Text] [Related]
11. Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis.
Le Stunff C; Tilotta F; Sadoine J; Le Denmat D; Briet C; Motte E; Clauser E; Bougnères P; Chaussain C; Silve C
J Bone Miner Res; 2017 Feb; 32(2):333-346. PubMed ID: 27589370
[TBL] [Abstract][Full Text] [Related]
12. PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.
Nagasaki K; Iida T; Sato H; Ogawa Y; Kikuchi T; Saitoh A; Ogata T; Fukami M
J Clin Endocrinol Metab; 2012 Sep; 97(9):E1808-13. PubMed ID: 22723333
[TBL] [Abstract][Full Text] [Related]
13. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.
Mitsui T; Kim OH; Hall CM; Offiah A; Johnson D; Jin DK; Toh TH; Soneda S; Keino D; Matsubayashi S; Ishii T; Nishimura G; Hasegawa T
Am J Med Genet A; 2014 Oct; 164A(10):2529-34. PubMed ID: 25044890
[TBL] [Abstract][Full Text] [Related]
14. Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Muhn F; Klopocki E; Graul-Neumann L; Uhrig S; Colley A; Castori M; Lankes E; Henn W; Gruber-Sedlmayr U; Seifert W; Horn D
Clin Genet; 2013 Dec; 84(6):531-8. PubMed ID: 23425300
[TBL] [Abstract][Full Text] [Related]
15. Structure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation.
Bruystens JG; Wu J; Fortezzo A; Del Rio J; Nielsen C; Blumenthal DK; Rock R; Stefan E; Taylor SS
J Mol Biol; 2016 Dec; 428(24 Pt B):4890-4904. PubMed ID: 27825928
[TBL] [Abstract][Full Text] [Related]
16. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
Lynch DC; Dyment DA; Huang L; Nikkel SM; Lacombe D; Campeau PM; Lee B; Bacino CA; Michaud JL; Bernier FP; ; Parboosingh JS; Innes AM
Hum Mutat; 2013 Jan; 34(1):97-102. PubMed ID: 23033274
[TBL] [Abstract][Full Text] [Related]
17. Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
Kaname T; Ki CS; Niikawa N; Baillie GS; Day JP; Yamamura K; Ohta T; Nishimura G; Mastuura N; Kim OH; Sohn YB; Kim HW; Cho SY; Ko AR; Lee JY; Kim HW; Ryu SH; Rhee H; Yang KS; Joo K; Lee J; Kim CH; Cho KH; Kim D; Yanagi K; Naritomi K; Yoshiura K; Kondoh T; Nii E; Tonoki H; Houslay MD; Jin DK
Cell Signal; 2014 Nov; 26(11):2446-59. PubMed ID: 25064455
[TBL] [Abstract][Full Text] [Related]
18. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid BM; Kant SG; Ruivenkamp CA; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjöld M; Mäkitie O; Nordgren A
J Med Genet; 2014 Jan; 51(1):45-54. PubMed ID: 24203977
[TBL] [Abstract][Full Text] [Related]
19. Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?
Elli FM; Mantovani G
Endocrine; 2021 Jun; 72(3):611-618. PubMed ID: 33179219
[TBL] [Abstract][Full Text] [Related]
20. Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs).
Elli FM; Pereda A; Linglart A; Perez de Nanclares G; Mantovani G
Best Pract Res Clin Endocrinol Metab; 2018 Dec; 32(6):941-954. PubMed ID: 30665554
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]