Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype. (Q53640716)

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13 March 2020

title

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype (English)

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13 March 2020

3

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Yousef M Binamer

10

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13 March 2020

author name string

Ruqaiah Altassan

1

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13 March 2020

Haya Al Saud

2

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13 March 2020

Haya Al Dosssari

4

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Ola Khalifa

5

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13 March 2020

Hamad Al-Zaidan

6

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Nadia Sakati

7

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Zuhair Rhabeeni

8

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Zuhair Al-Hassnan

9

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Nadia Alhashemi

11

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13 March 2020

William Wade

12

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13 March 2020

Zayed Al-Zayed

13

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Moeen Al-Sayed

14

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Mohamed A Al-Muhaizea

15

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Brian Meyer

16

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13 March 2020

Mohammad Al-Owain

17

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13 March 2020

Salma M Wakil

18

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language of work or name

English

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publication date

1 April 2017

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American Journal of Medical Genetics

13 March 2020

published in

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volume

173

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issue

4

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page(s)

1009-1016

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Hereditary sensory and autonomic neuropathies: types II, III, and IV

13 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Structural and functional properties of the TRK family of neurotrophin receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Neurobiology of pain, interoception and emotional response: lessons from nerve growth factor-dependent neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Signal transduction by the neurotrophin receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Neurotrophin signal transduction in the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

The nerve growth factor 35 years later

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Role of neurotrophins and trk receptors in the development and maintenance of sensory neurons: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Expression of the trk proto-oncogene is restricted to the sensory cranial and spinal ganglia of neural crest origin in mouse development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Congenital insensitivity to pain with anhidrosis presenting with palmoplantar keratoderma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Improving the physical realism and structural accuracy of protein models by a two-step atomic-level energy minimization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

Novel Pathogenic Mechanisms of Congenital Insensitivity to Pain with Anhidrosis Genetic Disorder Unveiled by Functional Analysis of Neurotrophic Tyrosine Receptor Kinase Type 1/Nerve Growth Factor Receptor Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.38120

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.38120

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13 March 2020

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