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1988 1
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Page 1
Molecular Targeting of ERKs/RSK2 Signaling in Cancers.
Cho YY. Cho YY. Curr Pharm Des. 2017 Nov 16;23(29):4247-4258. doi: 10.2174/1381612823666170714142338. Curr Pharm Des. 2017. PMID: 28714417 Review.
Accumulating studies have provided concrete evidence that p90 ribosomal S6 kinase 2 (RSK2) is a key signaling molecule involved in cell proliferation, transformation, and cancer development. RSK2 is known to be an etiological gene of Coffin-Lowry Syndrome (CL …
Accumulating studies have provided concrete evidence that p90 ribosomal S6 kinase 2 (RSK2) is a key signaling molecule involved in cell prol …
A female with Coffin-Lowry syndrome and "cataplexy".
Fryssira H, Kountoupi S, Delaunoy JP, Thomaidis L. Fryssira H, et al. Genet Couns. 2002;13(4):405-9. Genet Couns. 2002. PMID: 12558110
Coffin-Lowry syndrome (CLS) is an X-linked semidominant condition, caused by mutations in the gene encoding the ribosomal protein S6 kinase-2 (RSK-2), a growth factor regulating protein kinase, which is mapped to Xp 22.2. ...
Coffin-Lowry syndrome (CLS) is an X-linked semidominant condition, caused by mutations in the gene encoding the ribosom …
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M. Jurkiewicz D, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15. Eur J Med Genet. 2010. PMID: 20637903
Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant disorder caused by mutations in the RSK2 gene and characterized by moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers in males. ...In this …
Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant disorder caused by mutations in the RSK2 gene and characterize …
"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.
Crow YJ, Zuberi SM, McWilliam R, Tolmie JL, Hollman A, Pohl K, Stephenson JB. Crow YJ, et al. J Med Genet. 1998 Feb;35(2):94-8. doi: 10.1136/jmg.35.2.94. J Med Genet. 1998. PMID: 9507386 Free PMC article.
The Coffin-Lowry syndrome is a rare cause of mental retardation recognised by its distinctive facial and digital features. ...
The Coffin-Lowry syndrome is a rare cause of mental retardation recognised by its distinctive facial and digital featur …
Coffin-Lowry syndrome: a multicenter study.
Gilgenkrantz S, Mujica P, Gruet P, Tridon P, Schweitzer F, Nivelon-Chevallier A, Nivelon JL, Couillault G, David A, Verloes A, et al. Gilgenkrantz S, et al. Clin Genet. 1988 Oct;34(4):230-45. doi: 10.1111/j.1399-0004.1988.tb02870.x. Clin Genet. 1988. PMID: 3069251 Clinical Trial.
The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. ...
The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. …
Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate.
Havaligi N, Matadeen-Ali C, Khurana DS, Marks H, Kothare SV. Havaligi N, et al. Pediatr Neurol. 2007 Nov;37(5):373-4. doi: 10.1016/j.pediatrneurol.2007.06.025. Pediatr Neurol. 2007. PMID: 17950427
Coffin-Lowry syndrome is a well-defined clinical entity classically associated with moderate to severe mental retardation, characteristic facial features, skeletal deformities, and tapering fingers. A characteristic paroxysmal disorder was described in …
Coffin-Lowry syndrome is a well-defined clinical entity classically associated with moderate to severe mental re …
Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response.
Caraballo R, Tesi Rocha A, Medina C, Fejerman N. Caraballo R, et al. Epileptic Disord. 2000 Sep;2(3):173-6. Epileptic Disord. 2000. PMID: 11022143 Free article.
We present a patient with a complete Coffin-Lowry syndrome, associated with drop episodes precipitated by sudden auditory stimuli, which provoked in turn, a definite loss of muscle tone in both legs. Electrophysiological studies showed that these episodes are …
We present a patient with a complete Coffin-Lowry syndrome, associated with drop episodes precipitated by sudden audito …
Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam.
Nakamura M, Yamagata T, Momoi MY, Yamazaki T. Nakamura M, et al. Pediatr Neurol. 1998 Aug;19(2):148-50. doi: 10.1016/s0887-8994(98)00029-0. Pediatr Neurol. 1998. PMID: 9744638
A 16-year-old girl had fully manifested Coffin-Lowry syndrome and drop episodes. Her drop episodes were precipitated by sudden unexpected tactile or auditory stimuli associated with the electrostatic circumstances in her leg muscles immediately after the stim …
A 16-year-old girl had fully manifested Coffin-Lowry syndrome and drop episodes. Her drop episodes were precipitated by …
Molecular mechanisms underlying hemophilia A phenotype in seven females.
Pavlova A, Brondke H, Müsebeck J, Pollmann H, Srivastava A, Oldenburg J. Pavlova A, et al. J Thromb Haemost. 2009 Jun;7(6):976-82. doi: 10.1111/j.1538-7836.2009.03346.x. Epub 2009 Mar 19. J Thromb Haemost. 2009. PMID: 19302446 Free article.
Three further cases shared a common mechanism representing heterozygous mutations in the F8 gene (Arg1781His, Arg327His, small deletion in exon 10) combined with non-random inactivation of the X chromosome. The final case describes a coincidental inheritance of HA and C …
Three further cases shared a common mechanism representing heterozygous mutations in the F8 gene (Arg1781His, Arg327His, small deletion in e …
12 results