Varaico: Literature-Extracted Genetic Variants

Gene:NGF
Variant:p.R221W
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NGF

NM_002506.3:p.R221W

Associated Papers

The NGF R100W Mutation, Associated with Hereditary Sensory Autonomic Neuropathy Type V, Specifically Affects the Binding Energetic Landscapes of NGF and of Its Precursor proNGF and p75NTR.

Covaceuszach S et al.

Biology, 2023

Understanding pain perception through genetic painlessness diseases: The role of NGF and proNGF.

Testa G et al.

Pharmacological Research, 2021

Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.

Palma JA et al.

Neurology. Genetics, 2021

A missense point mutation in nerve growth factor (NGFR100W) results in selective peripheral sensory neuropathy.

Yang W et al.

Progress in Neurobiology, 2020

Mutation Carriers with Reduced C-Afferent Density Reveal Cortical Dynamics of Pain-Action Relationship during Acute Pain.

Perini I et al.

Cerebral Cortex (new York, N.y. : 1991), 2020

Unveiling functional motions based on point mutations in biased signaling systems: A normal mode study on nerve growth factor bound to TrkA.

Resende-Lara PT et al.

Plos One, 2020

The NGFR100W Mutation Specifically Impairs Nociception without Affecting Cognitive Performance in a Mouse Model of Hereditary Sensory and Autonomic Neuropathy Type V.

Testa G et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019

BDNF and NGF gene polymorphisms and urine BDNF-NGF levels in children with primary monosymptomatic nocturnal enuresis.

Ece A et al.

Journal of Pediatric Urology, 2019

Cholinergic striatal neurons are increased in HSAN V homozygous mice despite reduced NGF bioavailability.

Testa G et al.

Biochemical and Biophysical Research Communications, 2019

Targeted Mutation (R100W) of the Gene Encoding NGF Leads to Deficits in the Peripheral Sensory Nervous System.

Yang W et al.

Frontiers in Aging Neuroscience, 2018

Rare human nerve growth factor-β mutation reveals relationship between C-afferent density and acute pain evaluation.

Perini I et al.

Journal of Neurophysiology, 2016

Functional Characterization of Human ProNGF and NGF Mutants: Identification of NGF P61SR100E as a "Painless" Lead Investigational Candidate for Therapeutic Applications.

Malerba F et al.

Plos One, 2015

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

Indo Y

Clinical Genetics, 2012

Nerve growth factor β polypeptide (NGFB) genetic variability: association with the methadone dose required for effective maintenance treatment.

Levran O et al.

The Pharmacogenomics Journal, 2012

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

Davidson G et al.

Journal of Neurology, 2012

Genetic variability of pain perception and treatment--clinical pharmacological implications.

Lötsch J

European Journal of Clinical Pharmacology, 2011

Reduced C-afferent fibre density affects perceived pleasantness and empathy for touch.

Morrison I et al.

Brain : a Journal of Neurology, 2011

Taking pain out of NGF: a "painless" NGF mutant, linked to hereditary sensory autonomic neuropathy type V, with full neurotrophic activity.

Capsoni S et al.

Plos One, 2011

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy.

Carvalho OP et al.

Journal of Medical Genetics, 2011

In vitro receptor binding properties of a "painless" NGF mutein, linked to hereditary sensory autonomic neuropathy type V.

Covaceuszach S et al.

Biochemical and Biophysical Research Communications, 2010

Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain.

Fitzgibbon GJ et al.

Developmental Medicine and Child Neurology, 2009

Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF.

Larsson E et al.

Neurobiology of Disease, 2009

Molecular genetics of hereditary sensory neuropathies.

Auer-Grumbach M et al.

Neuromolecular Medicine, 2006

Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study.

Minde J et al.

Muscle & Nerve, 2004

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

Einarsdottir E et al.

Human Molecular Genetics, 2004

A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site.

Shaikh SS et al.

Molecular Pain, 0

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