Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.

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Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

@zh-cn

2018年学术文章

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2018年学术文章

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2018年學術文章

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name

Phenotypic heterogeneity of in ...... report and literature review.

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Phenotypic heterogeneity of in ...... report and literature review.

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type

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Phenotypic heterogeneity of in ...... report and literature review.

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Phenotypic heterogeneity of in ...... report and literature review.

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Phenotypic heterogeneity of in ...... report and literature review.

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Phenotypic heterogeneity of in ...... report and literature review.

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P1476

Phenotypic heterogeneity of in ...... report and literature review.

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P2093

Feng Zhang

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Guixing Qiu

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Jun Chen

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Nan Wu

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Philip F Giampietro

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Sen Liu

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Shishu Huang

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Weisheng Chen

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Wenjian Cao

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Yixin Chen

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P275

Creative Commons Attribution-NonCommercial 4.0 License

P2860

Structural and mechanistic insights into nerve growth factor interactions with the TrkA and p75 receptors

Neurotrophin-regulated signalling pathways

The crystal structures of TrkA and TrkB suggest key regions for achieving selective inhibition

Disruption of the paternal necdin gene diminishes TrkA signaling for sensory neuron survival

Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.

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.

Trk receptors use redundant signal transduction pathways involving SHC and PLC-gamma 1 to mediate NGF responses.

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

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2445-2457

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scholarly article

case report

review article

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10.1177/0300060517747164

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Jiaqi Liu

Gang Liu

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2018-04-05T00:00:00Z

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2018-06-01T00:00:00Z

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29619836

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P921

intellectual disability

sensory peripheral neuropathy

cell surface receptor

hereditary sensory and autonomic neuropathy

membrane proteins

congenital insensitivity to pain with anhidrosis

hereditary sensory and autonomic neuropathy type 5

hereditary sensory and autonomic neuropathy type 2

Anzim

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6023048

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