Results 91 to 100 of about 2,522,601 (164)

Gene Therapy for Allergic Diseases

, 2010
Allergic diseases, such as allergic asthma, allergic rhinitis, atopic dermatitis, conjunctivitis, urticaria, food allergy, and/or anaphylaxis, are associated with the skewing of immune responses towards a T helper 2 ( TH2) phenotype, resulting in ...
莊雅惠;楊曜旭;江伯倫, CHUANG, YA-HUI;YANG, YAO-HSU;CHIANG, BOR-LUEN   +1 more
core   +1 more source

Homozygous mutations in NTRK1 gene underlie congenital insensitivity to pain with anhidrosis in Pakistani families

, 2016
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder presenting with loss of pain sensation, thermal sensation defects, and self-mutilating behavior.
Husna Zayadi
core   +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

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

The Evaluation of Neurotrophic Receptor Tyrosine Kinase (NTRK) Alterations in Neuroblastomas

Frontiers in Bioscience-Scholar
Background: Neuroblastoma (NB) is the most common extracranial solid tumor among pediatric cancers and accounts for approximately 15% of childhood cancer-related deaths.
Nuriya Ismayil, Sefayi Merve Özdemir, Tekincan Çağrı Aktaş, Özde Elif Gökbayrak, Aylin Erol, Deniz Kızmazoğlu, Safiye Aktaş   +6 more
doaj   +1 more source

A novel group of spindle cell tumors defined by S100 and CD34 co-expression shows recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes

, 2018
Tumors characterized by co-expression of S100 and CD34, in the absence of SOX10, remain difficult to classify. Triggered by a few index cases with monomorphic cytomorphology and distinctive stromal and perivascular hyalinization, immunopositivity for ...
Albert J. H. Suurmeijer, Yun‐Shao Sung, Sung, Yun-Shao, Christopher D. M. Fletcher, Lei Zhang, Zhang, Lei, Cristina R. Antonescu, Antonescu, Cristina R, Suurmeijer, Albert J H, Dickson, Brendan C, Brendan C. Dickson, Swanson, David, Paolo Cotzia, Cotzia, Paolo, Fletcher, Christopher D M, David Swanson   +15 more
core   +1 more source

Prenatal radiological diagnosis of infant-type hemispheric glioma with NTRK1 gene rearrangement

Infant-type hemispheric gliomas are a rare group of central nervous system tumors occurring in very young children. Contemporary diagnostic approaches, including prenatal neuroimaging, molecular genetic profiling, and the use of targeted therapy, make it
N. A. Plakhotina, G. E. Trufanov, P. V. Kozlova, O. G. Zheludkova, A. A. Brusser   +4 more
core   +1 more source

How a common variant in the growth factor receptor gene, NTRK1, affects white matter

, 2012
Growth factors and their receptors are important for cellular migration as well as axonal guidance and myelination in the brain. They also play a key role in programmed cell death, and are implicated in a number of mental illnesses. Recently, we reported
Jahanshad, Neda, Wright, Margaret J., Braskie, Meredith N., de Zubicaray, Greig I., McMahon, Katie L, Martin, Nicholas G., Thompson, Paul M., Toga, Arthur W.   +7 more
core   +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