Results 121 to 130 of about 6,777,214 (229)

Predisposing deleterious variants in the cancer-associated human kinases in the global populations.

PLoS ONE
Human kinases play essential and diverse roles in the cellular activities of maintaining homeostasis and growth. Genetic mutations in the genes encoding the kinases (or phosphotransferases) have been linked with various types of cancers.
Salman Ahmed Khan, Misbah Anwar, Atia Gohar, Moom R Roosan, Daniel C Hoessli, Ambrina Khatoon, Muhammad Shakeel   +6 more
doaj   +1 more source

Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome

Vision
Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive syndrome caused by loss-of-function mutations in the Neurotrophic Tyrosine Kinase Receptor 1 gene, characterized by recurrent episodes of infections and ...
Mohammed Baker, Kenda Abedal-Kareem, Sadeen Eid, Mahmoud Alkhawaldeh, Yahya Albashaireh, Jihan Joulani, Sara Bani Amer, Ethar Hazaimeh, Omar F. Jbarah, Abdelwahab Aleshawi, Rami Al-Dwairi   +10 more
doaj   +1 more source

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

Human Mutation, 2001
Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neuropathy type IV (HSAN‐IV), is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to ...
Y. Indo
semanticscholar   +1 more source

NTRK1 Gene Mutation-associated Hereditary Sensory and Autonomic Neuropathy

Journal of South Asian Association of Pediatric Dentistry, 2022
Richa Mishra, Rakesh Pilania, Sarojini Rai   +2 more
openaire   +1 more source

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature

Molecular Genetics & Genomic Medicine
Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss‐of‐function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system.
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee   +13 more
doaj   +1 more source

Neurotrophic tyrosine receptor kinase gene fusions in adult and pediatric patients with solid tumors: a clinicogenomic biobank and record linkage study of expression frequency and patient characteristics from Finland

Acta Oncologica
Background: Neurotrophic tyrosine receptor kinase (NTRK) gene fusions are oncogenic drivers. Using the Auria Biobank in Finland, we aimed to identify and characterize patients with these gene fusions, and describe their clinical and tumor ...
Wei Zhang, Arndt A. Schmitz, Roosa E. Kallionpää, Merja Perälä, Niina Pitkänen, Mikko Tukiainen, Erika Alanne, Korinna Jöhrens, Renate Schulze-Rath, Bahman Farahmand, Jihong Zong   +10 more
doaj   +1 more source

Neuroblastoma cells with overexpressed MYCN retain their capacity to undergo neuronal differentiation [PDF]

, 2004
Culp, Lloyd A, Edsjö, Anders,, Karlsson, Jenny,, Lund University., Nilsson, Helén,, Pattyn, Filip, Påhlman, Sven,, Speleman, Frank, Vandesompele, Jo   +8 more
core   +2 more sources

A Case Report of Lung Adenocarcinoma with EGFR G719A Mutation 
and LMNA-NTRK1 Fusion

Chinese Journal of Lung Cancer
Fusion variations of neurotrophic receptor tyrosine kinase (NTRK) are oncogenic drivers in various solid tumors such as breast cancer, salivary gland carcinoma, infant fibrosarcoma, etc.
Shiqi SONG, Yaxian YANG, Weiquan LUO, Yueya LIANG, Qi LI, Tongxu ZHUO, Weibin XIONG, Jian HUANG   +7 more
doaj   +1 more source

A Potential Prognostic Gene Signature Associated with p53-Dependent NTRK1 Activation and Increased Survival of Neuroblastoma Patients

Cancers
Simple Summary Neuroblastomas are the most frequent neoplasms of infancy worldwide, accounting for 8% to 10% of all childhood cancers. Long-term survival with high-risk-type tumours is poor.
David Currie, Nicole Wong, Isabelle Zane, Tom Rix, Marios Vardakastanis, Amelia Claxton, Karine K. V. Ong, William Macmorland, Arthur Poivet, Anthony Brooks, Paola Niola, Derek Huntley, Ximena Montano   +12 more
semanticscholar   +1 more source

Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey

Molecular Genetics & Genomic Medicine
Background Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal‐recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN‐IV). The most commonly reported features include anhidrosis,
Tomoyasu Higashimoto, Martin E. Garber, Lauren Hipp, Jenna Damon, Qing Li   +4 more
doaj   +1 more source