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Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.
Spodzieja K, Olczak-Kowalczyk D. Spodzieja K, et al. Int J Environ Res Public Health. 2022 Mar 13;19(6):3386. doi: 10.3390/ijerph19063386. Int J Environ Res Public Health. 2022. PMID: 35329073 Free PMC article. Review.
RESULTS: In this study, 16 systemic diseases were linked to premature primary tooth loss in children: Papillon-Lefevre syndrome, mucocutaneous dyskeratosis, Coffin-Lowry syndrome, congenital adrenal hyperplasia, Langerhans cell histiocytosis, cherubism, hypop …
RESULTS: In this study, 16 systemic diseases were linked to premature primary tooth loss in children: Papillon-Lefevre syndrome, mucocutaneo …
Mitral valve repair and tricuspid annuloplasty for Coffin-Lowry syndrome.
Wakami T, Yoshizawa K, Maeda T, Mori O, Tamura N. Wakami T, et al. Asian Cardiovasc Thorac Ann. 2022 Nov;30(9):1017-1019. doi: 10.1177/02184923221123879. Epub 2022 Sep 7. Asian Cardiovasc Thorac Ann. 2022. PMID: 36069024
Coffin-Lowry syndrome is a rare X-linked disorder that shows a varied clinical presentation. We report cardiac involvement, particularly abnormalities of mitral valve morphology, in a 14-year-old male adolescent with a known diagnosis of Coffin-Lowr …
Coffin-Lowry syndrome is a rare X-linked disorder that shows a varied clinical presentation. We report cardiac involvem …
Defective synaptic plasticity in a model of Coffin-Lowry syndrome is rescued by simultaneously targeting PKA and MAPK pathways.
Liu RY, Zhang Y, Smolen P, Cleary LJ, Byrne JH. Liu RY, et al. Learn Mem. 2022 Nov 29;29(12):435-446. doi: 10.1101/lm.053625.122. Print 2022 Dec. Learn Mem. 2022. PMID: 36446603 Free PMC article.
Empirical and computational methods were combined to examine whether individual or dual-drug treatments can restore the deficit in long-term synaptic facilitation (LTF) of the Aplysia sensorimotor synapse observed in a cellular model of Coffin-Lowry syndrome …
Empirical and computational methods were combined to examine whether individual or dual-drug treatments can restore the deficit in long-term …
Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins.
Jin H, Li H, Qiang S. Jin H, et al. Medicina (Kaunas). 2022 Jul 20;58(7):958. doi: 10.3390/medicina58070958. Medicina (Kaunas). 2022. PMID: 35888677 Free PMC article.
Background and objectives: Coffin-Lowry Syndrome (CLS), a rare neurodegenerative disorder, is mainly diagnosed based on clinical manifestations and molecular analyses. ...
Background and objectives: Coffin-Lowry Syndrome (CLS), a rare neurodegenerative disorder, is mainly diagnosed based on …
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.
Tise CG, Matalon DR, Manning MA, Byers HM, Grover M. Tise CG, et al. J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221101844. doi: 10.1177/23247096221101844. J Investig Med High Impact Case Rep. 2022. PMID: 35638718 Free PMC article.
Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and digit anoma …
Pathogenic variants in RPS6KA3 are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder chara …
An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report.
Tan SL, Ahmad Narihan MGB, Koa AJ. Tan SL, et al. BMC Pediatr. 2023 Oct 28;23(1):541. doi: 10.1186/s12887-023-04376-5. BMC Pediatr. 2023. PMID: 37898736 Free PMC article.
BACKGROUND: Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. ...
BACKGROUND: Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, …
Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them.
Gürsoy S, Hazan F, Çetinoğlu E. Gürsoy S, et al. Psychiatr Genet. 2022 Oct 1;32(5):194-198. doi: 10.1097/YPG.0000000000000323. Epub 2022 Sep 14. Psychiatr Genet. 2022. PMID: 36125370
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disability, short stature, growth retardation, short hands, hyperextensible fingers and progressive kyphoscoliosis. ...
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disab …
Identification of RSK substrates using an analog-sensitive kinase approach.
Lizcano-Perret B, Vertommen D, Herinckx G, Calabrese V, Gatto L, Roux PP, Michiels T. Lizcano-Perret B, et al. J Biol Chem. 2024 Mar;300(3):105739. doi: 10.1016/j.jbc.2024.105739. Epub 2024 Feb 10. J Biol Chem. 2024. PMID: 38342435 Free PMC article.
In contrast, some reports suggest nonredundant functions for distinct RSK isoforms, whereas Coffin-Lowry syndrome has only been associated with mutations in the gene encoding RSK2. ...
In contrast, some reports suggest nonredundant functions for distinct RSK isoforms, whereas Coffin-Lowry syndrome has o …