181 related articles for article (PubMed ID: 22653642)
21. An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
Bonkowsky JL; Johnson J; Carey JC; Smith AG; Swoboda KJ
Pediatrics; 2003 Sep; 112(3 Pt 1):e237-41. PubMed ID: 12949319
[TBL] [Abstract][Full Text] [Related]
22. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
Indo Y; Tsuruta M; Hayashida Y; Karim MA; Ohta K; Kawano T; Mitsubuchi H; Tonoki H; Awaya Y; Matsuda I
Nat Genet; 1996 Aug; 13(4):485-8. PubMed ID: 8696348
[TBL] [Abstract][Full Text] [Related]
23. Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
Indo Y
Clin Auton Res; 2002 May; 12 Suppl 1():I20-32. PubMed ID: 12102460
[TBL] [Abstract][Full Text] [Related]
24. A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.
Yotsumoto S; Setoyama M; Hozumi H; Mizoguchi S; Fukumaru S; Kobayashi K; Saheki T; Kanzaki T
J Invest Dermatol; 1999 May; 112(5):810-4. PubMed ID: 10233776
[TBL] [Abstract][Full Text] [Related]
25. Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene.
Xue XM; Liu YQ; Pang P; Sun CF
J Oral Maxillofac Surg; 2018 Dec; 76(12):2582.e1-2582.e9. PubMed ID: 30075136
[TBL] [Abstract][Full Text] [Related]
26. Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.
Kilic SS; Ozturk R; Sarisozen B; Rotthier A; Baets J; Timmerman V
Neurogenetics; 2009 Apr; 10(2):161-5. PubMed ID: 19089473
[TBL] [Abstract][Full Text] [Related]
27. Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients.
Khaled B; Alzahayqa M; Jaffal A; Sallam H; Thawabta R; Mansour M; Alian A; Salah Z
BMC Med Genomics; 2023 May; 16(1):120. PubMed ID: 37248554
[TBL] [Abstract][Full Text] [Related]
28. [A novel mutation of NTRK1 gene in a family with congenital insensitivity to pain with anhidrosis].
Tang Y; Zheng D; Li Q; Wang Z; Lin Y; Lan F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):574-7. PubMed ID: 25297584
[TBL] [Abstract][Full Text] [Related]
29. Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux.
Franco ML; Melero C; Sarasola E; Acebo P; Luque A; Calatayud-Baselga I; García-Barcina M; Vilar M
J Biol Chem; 2016 Oct; 291(41):21363-21374. PubMed ID: 27551041
[TBL] [Abstract][Full Text] [Related]
30. Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
Mardy S; Miura Y; Endo F; Matsuda I; Indo Y
Hum Mol Genet; 2001 Feb; 10(3):179-88. PubMed ID: 11159935
[TBL] [Abstract][Full Text] [Related]
31. Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Cho JH; Hwang S; Kwak YH; Yum MS; Seo GH; Koh JY; Ju YS; Yoon JH; Kang M; Do HS; Kim S; Kim GH; Bae H; Lee BH
Mol Genet Genomic Med; 2024 Apr; 12(4):e2430. PubMed ID: 38581121
[TBL] [Abstract][Full Text] [Related]
32. Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
Bodzioch M; Lapicka K; Aslanidis C; Kacinski M; Schmitz G
Hum Mutat; 2001; 17(1):72. PubMed ID: 11139246
[TBL] [Abstract][Full Text] [Related]
33. Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
Liu Z; Liu J; Liu G; Cao W; Liu S; Chen Y; Zuo Y; Chen W; Chen J; Zhang Y; Huang S; Qiu G; Giampietro PF; Zhang F; Wu Z; Wu N
J Int Med Res; 2018 Jun; 46(6):2445-2457. PubMed ID: 29619836
[TBL] [Abstract][Full Text] [Related]
34. Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
Verpoorten N; Claeys KG; Deprez L; Jacobs A; Van Gerwen V; Lagae L; Arts WF; De Meirleir L; Keymolen K; Ceuterick-de Groote C; De Jonghe P; Timmerman V; Nelis E
Neuromuscul Disord; 2006 Jan; 16(1):19-25. PubMed ID: 16373086
[TBL] [Abstract][Full Text] [Related]
35. Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.
Amin S; Forrester N; Norman A; Lux A; Vijayakumar K
Clin Genet; 2017 Nov; 92(5):559-560. PubMed ID: 28940190
[TBL] [Abstract][Full Text] [Related]
36. Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them.
Barone R; Lempereur L; Anastasi M; Parano E; Pavone P
Neuropediatrics; 2005 Aug; 36(4):270-3. PubMed ID: 16138253
[TBL] [Abstract][Full Text] [Related]
37. [Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome].
Raspall-Chaure M; Del Toro-Riera M; Gratacós M; Cuenca-León E; Ferrer I; Indo Y; Roig-Quilis M; Macaya-Ruiz A
Rev Neurol; 2005 Aug 16-31; 41(4):218-22. PubMed ID: 16075400
[TBL] [Abstract][Full Text] [Related]
38. [Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis].
Li B; Zhang Z; Wu X; Chen W; Chen J; Lyu Q; Liu G
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):646-649. PubMed ID: 28981924
[TBL] [Abstract][Full Text] [Related]
39. Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis.
Gao L; Guo H; Ye N; Bai Y; Liu X; Yu P; Xue Y; Ma S; Wei K; Jin Y; Wen L; Xuan K
PLoS One; 2013; 8(6):e66863. PubMed ID: 23799134
[TBL] [Abstract][Full Text] [Related]
40. [Clinical and genetic aspects of congenital insensitivity to pain with anhidrosis].
Schwarzkopf R; Pinsk V; Weisel Y; Atar D; Gorzak Y
Harefuah; 2005 Jun; 144(6):433-7, 453, 452. PubMed ID: 15999564
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
