Current evidence for a modulation of low back pain by human genetic variants [PDF]
, 2009 The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration
Aberle +200 more
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Understanding Hereditary Sensory and Autonomic Neuropathy type IV through a novel knock-in mouse model [PDF]
, 2023 in pain sensation. Indeed, a functional NGF-TrkA system is an essential requisite for the generation and maintenance of long-lasting thermal and mechanical hyperalgesia in adult mammals.
PACIFICO, Paola
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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies [PDF]
, 2023 Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons.
Baineni, Revanth +30 more
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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine [PDF]
, 2017 BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few ...
Fang, H. +8 more
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Understanding pain perception through genetic painlessness diseases: The role of NGF and proNGF. [PDF]
, 2021 Nerve growth factor (NGF), by binding to TrkA and p75(NTR) receptors, regulates the survival and differentiation of sensory neurons during development and mediates pain transmission and perception during adulthood, by acting at different levels of the ...
Antonino Cattaneo +2 more
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Congenital Insensitivity to Pain (HSNA type IV)
Pediatric Neurology Briefs, 2015 Investigators from New York University, NY, studied 14 patients with congenital insensitivity to pain with anhidrosis (CIPA), compared to 10 patients with chronically deficient sympathetic activity (pure autonomic failure), and 15 normal age-matched ...
J Gordon Millichap
doaj +1 more source
Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV [PDF]
, 2022 A functional nerve growth factor (NGF)-TrkA system is an essential requisite for the generation and maintenance of long-lasting thermal and mechanical hyperalgesia in adult mammals.
Amodeo, Rosy +10 more
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Congenital insensitivity to pain and anhidrosis: A case report from South India
Indian Journal of Dermatology, 2012 Congenital insensitivity to pain with anhidrosis, also known as hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent ...
Carounanidy Udayashankar +2 more
doaj +1 more source
Congenital Insensitivity to Pain with Anhidrosis (CIPA) Syndrome; A Rare Genetic Disorder Case Story
Case Reports in Clinical Practice, 2022 Congenital insensitivity to pain with anhidrosis (CIPA) is the subtype four of hereditary sensory and autonomic neuropathy (HASN IV), caused by a defect in the NTRK1 gene and presenting early in life.
Zahra Nafei, Marjan Jafari
doaj +1 more source
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 [PDF]
, 2011 Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high
A Beigelman +30 more
core +3 more sources