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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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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Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis

Expert Review of Neurotherapeutics ◽

10.1586/ern.10.154 ◽

2010 ◽

Vol 10 (11) ◽

pp. 1707-1724 ◽

Author(s):

Yasuhiro Indo

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Nerve Growth ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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Nerve growth factor, interoception, and sympathetic neuron: Lesson from congenital insensitivity to pain with anhidrosis

Autonomic Neuroscience ◽

10.1016/j.autneu.2009.01.008 ◽

2009 ◽

Vol 147 (1-2) ◽

pp. 3-8 ◽

Author(s):

Yasuhiro Indo

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Sympathetic Neuron ◽

Nerve Growth ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain

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Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis

Clinical Genetics ◽

10.1111/j.1399-0004.2012.01943.x ◽

2012 ◽

Vol 82 (4) ◽

pp. 341-350 ◽

Author(s):

Y Indo

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

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 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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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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Anti-Apoptotic Effect of Nerve Growth Factor Is Lost in Congenital Insensitivity to Pain with Anhidrosis (CIPA) B Lymphocytes

Journal of Clinical Immunology ◽

10.1023/b:joci.0000025452.79585.a1 ◽

2004 ◽

Vol 24 (3) ◽

pp. 302-308 ◽

Author(s):

Yuya Sato ◽

Yayoi Tsuboi ◽

Hidemitsu Kurosawa ◽

Kenichi Sugita ◽

Mitsuoki Eguchi

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

B Lymphocytes ◽

Nerve Growth ◽

Congenital Insensitivity ◽

Apoptotic Effect ◽

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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Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): The role of nerve growth factor

Clinical Immunology ◽

10.1016/j.clim.2008.09.005 ◽

2009 ◽

Vol 130 (3) ◽

pp. 365-372 ◽

Author(s):

Avraham Beigelman ◽

Jacov Levy ◽

Nurit Hadad ◽

Vered Pinsk ◽

Alon Haim ◽

...

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Chemotactic Activity ◽

Nerve Growth ◽

Congenital Insensitivity ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain ◽

Neutrophil Chemotactic Activity

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Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

Human Genetics ◽

10.1007/s004390000369 ◽

2000 ◽

Vol 107 (3) ◽

pp. 205-209 ◽

Author(s):

Yuichi Miura ◽

Makoto Hiura ◽

Katsumi Torigoe ◽

Osamu Numata ◽

Atsushi Kuwahara ◽

...

Keyword(s):

Nerve Growth Factor ◽

Growth Factor ◽

Receptor Tyrosine Kinase ◽

Chromosome 1 ◽

Gene Encoding ◽

Congenital Insensitivity ◽

Uniparental Isodisomy ◽

Congenital Insensitivity To Pain ◽

Insensitivity To Pain ◽

Mutation Analyses

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