Coffin-Lowry Syndrome (Syndrome, Coffin-Lowry)

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29 relevant articles (0 outcomes, 1 trials/studies) found for this Disease

Description: A rare, X-linked mental retardation syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

Also Known As:

Syndrome, Coffin-Lowry; Coffin Lowry Syndrome

Disease Context: Research Results

Nervous System Diseases: 3406

Neurologic Manifestations: 2876

Neurobehavioral Manifestations: 296

Mental Retardation: 2547

X-Linked Mental Retardation: 133

Coffin-Lowry Syndrome: 29

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 420

Inborn Genetic Diseases: 548

Nervous System Heredodegenerative Disorders: 24

X-Linked Mental Retardation: 133

Coffin-Lowry Syndrome: 29

X-Linked Genetic Diseases: 12

X-Linked Mental Retardation: 133

Coffin-Lowry Syndrome: 29

Related Diseases

1.	Syncope (Fainting)
2.	X-Linked Mental Retardation (Mental Retardation, X Linked)
3.	Mental Retardation (Idiocy)
4.	Syndrome
5.	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)
8 Diseases and 11 more articles analyzed in the Research Interface, order at left...

Experts

1.	Béglé, Aurélie: 1 article (06/2008)
2.	Becherer, Ute: 1 article (06/2008)
3.	Rettig, Jens: 1 article (06/2008)
4.	Vitale, Nicolas: 1 article (06/2008)
5.	Bader, Marie-France: 1 article (06/2008)
6.	Zeniou-Meyer, Maria: 1 article (06/2008)
7.	Liu, Yuanyuan: 1 article (06/2008)
8.	Olanish, Mary: 1 article (06/2008)
9.	Hanauer, André: 1 article (06/2008)
10.	Marks, Harold: 1 article (11/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Coffin-Lowry Syndrome:

1.	Clonazepam (Rivotril)FDA LinkGeneric 08/01/1998 - "Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam." 11/01/2007 - "We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks." Get all the results and reference details, order at left...
2.	Citalopram (Escitalopram)FDA LinkGeneric 11/01/2007 - "We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks." Get all the results and reference details, order at left...
3.	Sodium Oxybate (gamma Hydroxybutyrate)FDA Link 11/01/2007 - "Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate." 11/01/2007 - "We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks." Get all the results and reference details, order at left...
4.	Anticonvulsants (Antiepileptic Drugs)IBA 11/01/2007 - "We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks." Get all the results and reference details, order at left...
5.	Phosphotransferases (Kinase)IBA 12/12/1996 - "Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome." 11/01/1998 - "Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome." 09/01/2004 - "Neurofibromatosis, Coffin-Lowry syndrome and Rubinstein-Taybi syndrome are three examples of developmental disorders that have mutations in key components of the MAP kinase signaling pathway." 01/01/2004 - "Coffin-Lowry syndrome (CLS) is caused by mutations in the RSK2 gene encoding a protein kinase of the Ras signalling pathway" 07/05/2002 - "Cells from a Coffin-Lowry syndrome patient (deficient in RSK2) or expressing an N-terminal or C-terminal kinase-dead mutant of MSK1 were defective for UVB-induced serine 112 phosphorylation of Bad" Get all the results and reference details, order at left...
6.	polypeptide 3 90kDa ribosomal protein S6 kinaseIBA 12/01/2003 - "Two novel mutations of the ribosomal S6 kinase 2 gene (also known as RSK2) have been identified in two unrelated patients with Coffin-Lowry syndrome" 10/01/1999 - "An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been identified in two male sibs with a mild form of Coffin-Lowry syndrome (CLS) inherited from their healthy mother" 10/01/2001 - "Coffin-Lowry syndrome is a rare X-linked, semi-dominant mental retardation syndrome resulting from mutations of the ribosomal S6 kinase 2 (RSK2) gene" 01/23/2001 - "Patients with the X-linked disorder Coffin-Lowry syndrome (CLS) have cognitive disabilities, distinctive features, and bony abnormalities as well as mutations in RSK2 (ribosomal S6 kinase-2), a protein kinase that activates CREB by phosphorylation at serine 133" 09/01/2006 - "Ribosomal S6 kinase 2 (RSK2) is a serine/threonine kinase that plays a role in human cancer and Coffin-Lowry syndrome and is comprised of two nonidentical kinase domains, each domain with its own ATP-binding site" Get all the results and reference details, order at left...
7.	Protein Kinases (Protein Kinase)IBA 12/01/2007 - "Heterogeneous mutations in the X-linked gene RPS6KA3, encoding the protein kinase RSK2, are responsible for Coffin-Lowry Syndrome" 11/01/1998 - "We have recently shown that Coffin-Lowry syndrome is caused by mutations in the gene encoding RSK2, a growth factor regulated protein kinase" 01/01/2002 - "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" 11/01/2000 - "In Coffin-Lowry syndrome cells, HSF1-HSE DNA binding activity after treatment with sodium salicylate was slightly higher than that in untreated cells, indicating that although RSK2 is involved in HSF1 regulation, it is not the unique protein kinase that suppresses HSF1-HSE binding activity at 37 degrees C" Get all the results and reference details, order at left...
8.	Ribosomal Protein S6 Kinases (S6 Kinase)IBA 12/01/2008 - "To further investigate RSK2 (90-kDa ribosomal S6 kinase) implication in cognitive processes, a mrsk2_KO mouse has previously been generated as an animal model of Coffin-Lowry syndrome" 03/01/2005 - "Inactivation of the growth factor-regulated S6 kinase RSK2 causes Coffin-Lowry syndrome in humans, an X-linked mental retardation condition associated with progressive skeletal abnormalities" 03/01/2005 - "Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene" Get all the results and reference details, order at left...
9.	Protein-Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 09/01/2007 - "BACKGROUND: Coffin-Lowry syndrome is a semi-dominant condition characterized by severe psychomotor retardation with facial, hand and skeletal malformations resulting from mutations in RSK2 gene, encoding for a serine/threonine kinase" 01/01/2004 - "The 90 kDa ribosomal S6 serine/threonine kinase 2 gene (RSK2, U08316) has been recently identified as a disease-causing gene in an X-linked disorder, the Coffin-Lowry Syndrome (MIM 303600) characterized by severe mental retardation, facial dysmorphisms and progressive skeletal malformations" 09/01/2006 - "Ribosomal S6 kinase 2 (RSK2) is a serine/threonine kinase that plays a role in human cancer and Coffin-Lowry syndrome and is comprised of two nonidentical kinase domains, each domain with its own ATP-binding site" Get all the results and reference details, order at left...
10.	Staphylococcal Protein A (A, Protein)IBA 01/01/2004 - "Coffin-Lowry syndrome (CLS) is caused by mutations in the RSK2 gene encoding a protein kinase of the Ras signalling pathway" 01/23/2001 - "Patients with the X-linked disorder Coffin-Lowry syndrome (CLS) have cognitive disabilities, distinctive features, and bony abnormalities as well as mutations in RSK2 (ribosomal S6 kinase-2), a protein kinase that activates CREB by phosphorylation at serine 133" Get all the results and reference details, order at left...
30 Drugs and Important Bio-Agents and 29 more articles analyzed in the Research Interface, order at left...

Therapies and Procedures

Aftercare (After-Treatment)

11/01/2000 - "In Coffin-Lowry syndrome cells, HSF1-HSE DNA binding activity after treatment with sodium salicylate was slightly higher than that in untreated cells, indicating that although RSK2 is involved in HSF1 regulation, it is not the unique protein kinase that suppresses HSF1-HSE binding activity at 37 degrees C"
Get all the results and reference details, order at left...

1 Therapies and Procedures and 1 more articles analyzed in the Research Interface, order at left...

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