Results 61 to 70 of about 5,874 (223)

Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients

open access: yesBMC Medical Genomics, 2023
Background Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder characterized primarily by an inability to perceive physical pain from birth, resulting in the accumulation of bruising, inflammation, and fractures that affect ...
Boushra Khaled   +7 more
doaj   +1 more source

Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study

open access: yesEuropean Journal of Neurology, Volume 33, Issue 5, May 2026.
This study investigates four Chinese families with congenital insensitivity to pain with anhidrosis (CIPA). Through next‐generation sequencing, we identified seven NTRK1 variants, including two novel mutations. Functional characterization of five identified missense and indel variants revealed distinct disruptions in the NGF‐TrkA pathway, ranging from ...
Yaqiong Ren   +9 more
wiley   +1 more source

Unraveling Chronic Pain: From Mechanisms and Risks to Diagnosis and Treatment

open access: yesMedComm, Volume 7, Issue 4, April 2026.
Chronic pain arises through distinct molecular pathways categorized into nociceptive, neuropathic, and nociplastic types. Nociceptive pain begins with TRP channel activation in peripheral nociceptors, signaling via Aδ‐ and C‐fibers through the spinal dorsal horn and spinothalamic tracts to the brain, regulated by descending inhibition and involving ...
Xiaofeng Dai   +3 more
wiley   +1 more source

A case of hereditary sensory autonomic neuropathy type IV

open access: yesAnnals of Indian Academy of Neurology, 2012
Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation.
G P Prashanth, Mahesh Kamate
doaj   +1 more source

Case report: Ten cases of acquired idiopathic generalized anhidrosis treated with oral pilocarpine

open access: yesJournal of Cutaneous Immunology and Allergy
Acquired idiopathic generalized anhidrosis is a rare disease characterized by systemic anhidrosis or hypohidrosis without other systemic diseases. However, its etiology remains unclear.
Hanako Miyahara   +6 more
doaj   +1 more source

Breast Fibromatosis in a Patient With a History of Treated Breast Cancer: A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Desmoid tumors are benign mesenchymal neoplasms that originate from muscular fasciae and aponeuroses. Breast involvement is exceptionally rare, accounting for less than 0.2% of all breast tumors. A 41‐year‐old woman with a history of right‐sided invasive ductal carcinoma (IDC) diagnosed in 2022 underwent breast‐conserving surgery (BCS) and ...
Saba Ebrahimian   +2 more
wiley   +1 more source

PD‐L1‐Inhibitor‐Associated Hidradenitis Suppurativa

open access: yes
Journal of Cutaneous Pathology, EarlyView.
Annie Jin   +2 more
wiley   +1 more source

Molecular determinants of signal transduction in tropomyosin receptor kinases

open access: yesFEBS Open Bio, Volume 16, Issue 2, Page 252-267, February 2026.
Tropomyosin receptor kinases control critical neuronal functions, but how do the same receptors produce diverse cellular responses? This review explores the structural mechanisms behind Trk signaling diversity, focusing on allosteric modulation and ligand bias.
Giray Enkavi
wiley   +1 more source

Fibers and fabrics for chemical and biological sensing [PDF]

open access: yes, 2012
Wearable sensors can be used to monitor many interesting parameters about the wearer’s physiology and environment, with important applications in personal health and well-being, sports performance and personal safety.
Benito-Lopez, Fernando   +4 more
core  

TBX3‐ Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 291-299, February 2026.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Home - About - Disclaimer - Privacy