A novel point mutation affecting the tyrosine kinase domain of the nerve growth factor receptor gene, TRKA, in a family with congenital insensitivity to pain with anhidrosis

Journal of Dermatological Science ◽

10.1016/s0923-1811(98)83857-7 ◽

1998 ◽

Vol 16 ◽

pp. S144

Author(s):

Shinichi Yotsumoto ◽

Mitsuru Setoyama ◽

Hideki Hozumi ◽

Seita Fukumaru ◽

Shimako Mizoguchi ◽

...

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Tyrosine Kinase ◽

Receptor Gene ◽

Growth Factor Receptor ◽

Kinase Domain ◽

Tyrosine Kinase Domain ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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A novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhidrosis (CIPA)

Neuromuscular Disorders ◽

10.1016/j.nmd.2015.06.355 ◽

2015 ◽

Vol 25 ◽

pp. S285 ◽

Author(s):

N. Forrester ◽

S. Burton-Jones ◽

T. Antoniadi ◽

A. Norman ◽

A. Majumdar ◽

...

Keyword(s):

Tyrosine Kinase ◽

Kinase Domain ◽

Tyrosine Kinase Domain ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): Mutations and polymorphisms inTRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor

Human Mutation ◽

10.1002/humu.1224 ◽

2001 ◽

Vol 18 (6) ◽

pp. 462-471 ◽

Author(s):

Yasuhiro Indo

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Tyrosine Kinase ◽

Receptor Tyrosine Kinase ◽

Molecular Basis ◽

Gene Encoding ◽

Nerve Growth ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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MULTISYSTEM INVOLVEMENT IN CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS (CIPA), A NERVE GROWTH FACTOR RECEPTOR (TRK A)-RELATED DISORDER

Journal of the Peripheral Nervous System ◽

10.1046/j.1529-8027.2000.00022-27.x ◽

2000 ◽

Vol 5 (4) ◽

pp. 243-243

Author(s):

E Toscano ◽

R della Casa ◽

S Mardy ◽

L Gaetaniello ◽

F Sadile ◽

...

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Growth Factor Receptor ◽

Nerve Growth Factor Receptor ◽

Related Disorder ◽

Nerve Growth ◽

Congenital Insensitivity ◽

Multisystem Involvement ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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MULTISYSTEM INVOLVEMENT IN CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS (CIPA), A NERVE GROWTH FACTOR RECEPTOR (TRK A)‐RELATED DISORDER

Journal of the Peripheral Nervous System ◽

10.1111/j.1529-8027.2000.22-27.x ◽

2000 ◽

Vol 5 (4) ◽

pp. 243-243

Author(s):

E Toscano ◽

R Della Casa ◽

S Mardy ◽

L Gaetaniello ◽

F Sadile ◽

...

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Growth Factor Receptor ◽

Nerve Growth Factor Receptor ◽

Related Disorder ◽

Nerve Growth ◽

Congenital Insensitivity ◽

Multisystem Involvement ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

BMC Medical Genetics ◽

10.1186/1471-2350-12-86 ◽

2011 ◽

Vol 12 (1) ◽

Author(s):

Esther Sarasola ◽

Jose A Rodríguez ◽

Elisa Garrote ◽

Javier Arístegui ◽

Maria J García-Barcina

Keyword(s):

Tyrosine Kinase ◽

Splice Site ◽

Splice Site Mutation ◽

Kinase Domain ◽

Tyrosine Kinase Domain ◽

Site Mutation ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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The Gly571arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor

Journal of Cellular Physiology ◽

10.1002/(sici)1097-4652(200001)182:1<127::aid-jcp14>3.0.co;2-0 ◽

2000 ◽

Vol 182 (1) ◽

pp. 127-133 ◽

Author(s):

Angela Greco ◽

Riccardo Villa ◽

Lisa Fusetti ◽

Rosaria Orlandi ◽

Marco A. Pierotti

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Growth Factor Receptor ◽

Nerve Growth Factor Receptor ◽

Nerve Growth ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.1999.00569.x ◽

1999 ◽

Vol 112 (5) ◽

pp. 810-814 ◽

Author(s):

Shinichi Yotsumoto ◽

Mitsuru Setoyama ◽

Hideki Hozumi ◽

Shimako Mizoguchi ◽

Seita Fukumaru ◽

...

Keyword(s):

Tyrosine Kinase ◽

Point Mutation ◽

Kinase Domain ◽

Tyrosine Kinase Domain ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor

Human Molecular Genetics ◽

10.1093/hmg/10.3.179 ◽

2001 ◽

Vol 10 (3) ◽

pp. 179-188 ◽

Author(s):

S. Mardy

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Tyrosine Kinase ◽

Receptor Tyrosine Kinase ◽

Missense Mutations ◽

Nerve Growth ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis

Clinical Genetics ◽

10.1111/cge.13064 ◽

2017 ◽

Vol 92 (5) ◽

pp. 559-560 ◽

Author(s):

S. Amin ◽

N. Forrester ◽

A. Norman ◽

A. Lux ◽

K. Vijayakumar

Keyword(s):

Tyrosine Kinase ◽

Kinase Domain ◽

Tyrosine Kinase Domain ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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Multisystem Involvement in Congenital Insensitivity to Pain with Anhidrosis (CIPA), a Nerve Growth Factor Receptor(Trk A)-Related Disorder

Neuropediatrics ◽

10.1055/s-2000-15296 ◽

2000 ◽

Vol 31 (1) ◽

pp. 39-41 ◽

Author(s):

E. Toscano ◽

R. della Casa ◽

S. Mardy ◽

Lucia Gaetaniello ◽

F. Sadile ◽

...

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Growth Factor Receptor ◽

Nerve Growth Factor Receptor ◽

Related Disorder ◽

Nerve Growth ◽

Congenital Insensitivity ◽

Multisystem Involvement ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

Download Full-text