Results 41 to 50 of about 12,023 (208)
An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed [PDF]
, 2016 Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age.
Beltran, E +9 more
core +4 more sources
BMC Medical Genetics, 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.
Arístegui Javier +4 more
doaj +1 more source
NTRK fusion in Japanese colorectal adenocarcinomas
Scientific Reports, 2021 NTRK fusion-positive tumors are known to be highly sensitive to TRK inhibitors, such as larotrectinib and entrectinib. Therefore, identification of patients who can potentially benefit from these inhibitors is important; however, the frequency of NTRK ...
Yuya Yamashiro +6 more
doaj +1 more source
Effective osimertinib treatment in a patient with discordant T790 M mutation detection between liquid biopsy and tissue biopsy. [PDF]
, 2018 BACKGROUND:We report the successful treatment of the patient with osimertinib 80 mg/day following disease progression and a discordance in the detection of a mechanism of resistance epithelial growth factor receptor (EGFR) T790 M between liquid biopsy ...
Mambetsariev, Isa +3 more
core +1 more source
Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features [PDF]
, 2018 Diffuse leptomeningeal glioneuronal tumors (DLGNT) represent rare CNS neoplasms which have been included in the 2016 update of the WHO classification. The wide spectrum of histopathological and radiological features can make this enigmatic tumor entity ...
Brandner, Sebastian +34 more
core +1 more source
Deletion of Tsc2 in nociceptors reduces target innervation, ion channel expression, and sensitivity to heat [PDF]
, 2018 The mechanistic target of rapamycin complex 1 (mTORC1) is known to regulate cellular growth pathways, and its genetic activation is sufficient to enhance regenerative axon growth following injury to the central or peripheral nervous systems.
Carlin, Dan +6 more
core +2 more sources
Brain Sciences, 2020 Nerve growth factor (NGF) receptors are evolutionary conserved molecules, and in mammals are considered necessary for ensuring the survival of cholinergic neurons.
Paolo de Girolamo +5 more
doaj +1 more source
Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis
Frontiers in Genetics, 2021 Background: Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive sensory neuropathy, was caused mainly by biallelic mutations in the NTRK1 gene.
Kai Yang +10 more
doaj +1 more source
Potential novel therapy targets in neuroendocrine carcinomas of the breast [PDF]
, 2018 Neuroendocrine carcinoma (NEC) of the breast is a rare, special type of breast cancer, reportedly constituting 2% to 5% of all breast cancers. Although breast NEC does not have a specific targeted therapy, several new targeted therapies based on specific
Contreras, Elma +7 more
core +2 more sources
Cancer Science, EarlyView.Our findings indicate that a pediatric/AYA‐specific targeted panel deployed in a hospital can deliver rapid, clinically actionable molecular insights with high diagnostic and prognostic yield. This complements larger sequencing platforms by offering speed, focused content, and easier interpretation.
Masato Kojima +8 more
wiley +1 more source