180 related articles for article (PubMed ID: 33780732)
1. Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2.
Fukunaga I; Oe Y; Danzaki K; Ohta S; Chen C; Iizumi M; Shiga T; Matsuoka R; Anzai T; Hibiya-Motegi R; Tajima S; Ikeda K; Akamatsu W; Kamiya K
Stem Cell Res; 2021 May; 53():102290. PubMed ID: 33780732
[TBL] [Abstract][Full Text] [Related]
2. Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation.
Fukunaga I; Shiga T; Chen C; Oe Y; Danzaki K; Ohta S; Matsuoka R; Anzai T; Hibiya-Motegi R; Tajima S; Ikeda K; Akamatsu W; Kamiya K
Stem Cell Res; 2020 Mar; 43():101674. PubMed ID: 31926383
[TBL] [Abstract][Full Text] [Related]
3. Generation of two induced pluripotent stem cell lines from PBMCs of siblings carrying c.235delC mutation in the GJB2 gene associated with sensorineural hearing loss.
Fukunaga I; Shirai K; Oe Y; Danzaki K; Ohta S; Shiga T; Chen C; Ikeda K; Akamatsu W; Kawano A; Kamiya K
Stem Cell Res; 2020 Jul; 47():101910. PubMed ID: 32745712
[TBL] [Abstract][Full Text] [Related]
4. Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene.
Huang CY; Tsai YH; Tsai YC; Lu YC; Chan YH; Hsu CJ; Chiou SH; Wu CC; Cheng YF
Stem Cell Res; 2020 May; 45():101795. PubMed ID: 32388442
[TBL] [Abstract][Full Text] [Related]
5. Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene.
Yang X; Liu N; Mu H; Lv Y; Zhang H; Li Y; Guan J; Gai Z; Liu Y
Stem Cell Res; 2021 Mar; 51():102188. PubMed ID: 33517119
[TBL] [Abstract][Full Text] [Related]
6. The clinical features of patients with the homozygous 235delC and the compound-heterozygous Y136X/G45E of the GJB2 mutations (Connexin 26) in cochlear implant recipients.
Yoshikawa S; Kawano A; Hayashi C; Nishiyama N; Kawaguchi S; Furuse H; Ikeda K; Suzuki M; Nakagawa M
Auris Nasus Larynx; 2011 Aug; 38(4):444-9. PubMed ID: 21292415
[TBL] [Abstract][Full Text] [Related]
7. GJB2-associated hearing loss undetected by hearing screening of newborns.
Minami SB; Mutai H; Nakano A; Arimoto Y; Taiji H; Morimoto N; Sakata H; Adachi N; Masuda S; Sakamoto H; Yoshida H; Tanaka F; Morita N; Sugiuchi T; Kaga K; Matsunaga T
Gene; 2013 Dec; 532(1):41-5. PubMed ID: 24013081
[TBL] [Abstract][Full Text] [Related]
8. Generation of induced pluripotent stem cells MMCi001-A from a Taiwanese hearing loss patient carrying GJB2 pV37I mutation.
Lu HE; Tsai CL; Chiu IM; Pan YL; Lin YF; Lin HC; Hsu YC
Stem Cell Res; 2020 Jan; 42():101692. PubMed ID: 31896484
[TBL] [Abstract][Full Text] [Related]
9. Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation.
Chan YH; Cheng YF; Chen YT; Huang CY; Lin CH; Hu CJ; Lu YC; Wu CC; Hsu CJ
Stem Cell Res; 2018 Dec; 33():51-55. PubMed ID: 30316039
[TBL] [Abstract][Full Text] [Related]
10. Modeling gap junction beta 2 gene-related deafness with human iPSC.
Fukunaga I; Oe Y; Danzaki K; Ohta S; Chen C; Shirai K; Kawano A; Ikeda K; Kamiya K
Hum Mol Genet; 2021 Jul; 30(15):1429-1442. PubMed ID: 33997905
[TBL] [Abstract][Full Text] [Related]
11. Investigation of the hearing levels of siblings affected by a single GJB2 variant: Possibility of genetic modifiers.
Hosoya M; Fujioka M; Nara K; Morimoto N; Masuda S; Sugiuchi T; Katsunuma S; Takagi A; Morita N; Ogawa K; Kaga K; Matsunaga T
Int J Pediatr Otorhinolaryngol; 2021 Oct; 149():110840. PubMed ID: 34293626
[TBL] [Abstract][Full Text] [Related]
12. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.
Abidi O; Boulouiz R; Nahili H; Ridal M; Alami MN; Tlili A; Rouba H; Masmoudi S; Chafik A; Hassar M; Barakat A
Int J Pediatr Otorhinolaryngol; 2007 Aug; 71(8):1239-45. PubMed ID: 17553572
[TBL] [Abstract][Full Text] [Related]
13. [Analysis of clinical phenotypes and GJB2 gene mutations in families affected with hearing loss from southern Zhejiang].
Xu C; Xiang Y; Chen C; Lin X; Li H; Lu J; Hu L; Xu X; Tang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug; 34(4):519-523. PubMed ID: 28777850
[TBL] [Abstract][Full Text] [Related]
14. A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.
Gonçalves AC; Chora J; Matos TD; Santos R; O'Neill A; Escada P; Fialho G; Caria H
Int J Pediatr Otorhinolaryngol; 2013 Jan; 77(1):89-91. PubMed ID: 23141775
[TBL] [Abstract][Full Text] [Related]
15. In Vitro Models of GJB2-Related Hearing Loss Recapitulate Ca
Fukunaga I; Fujimoto A; Hatakeyama K; Aoki T; Nishikawa A; Noda T; Minowa O; Kurebayashi N; Ikeda K; Kamiya K
Stem Cell Reports; 2016 Dec; 7(6):1023-1036. PubMed ID: 27840044
[TBL] [Abstract][Full Text] [Related]
16. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
Green GE; Scott DA; McDonald JM; Woodworth GG; Sheffield VC; Smith RJ
JAMA; 1999 Jun; 281(23):2211-6. PubMed ID: 10376574
[TBL] [Abstract][Full Text] [Related]
17. Generation of human induced pluripotent stem cell lines carrying heterozygous PLN mutation from dilated cardiomyopathy patients.
Caudal A; Mondejar-Parreño G; Vera CD; Williams DR; Shenoy SP; Liang D; Wu JC
Stem Cell Res; 2022 Aug; 63():102855. PubMed ID: 35853412
[TBL] [Abstract][Full Text] [Related]
18. [Etiologic analysis of severe to profound hearing loss patients from Chifeng city in Inner Mongolia].
Yuan YY; Dai P; Zhu XH; Kang DY; Zhang X; Huang DL
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2009 Apr; 44(4):292-6. PubMed ID: 19558834
[TBL] [Abstract][Full Text] [Related]
19. [A follow-up study of abnormal mutation in neonatal deafness gene screening].
Liu QM; Tian Y; Yu JJ; He QQ; Peng L; Guo XQ; Li DY; Chen T
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Dec; 54(12):881-887. PubMed ID: 31887812
[No Abstract] [Full Text] [Related]
20. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.
Uyguner O; Emiroglu M; Uzumcu A; Hafiz G; Ghanbari A; Baserer N; Yuksel-Apak M; Wollnik B
Clin Genet; 2003 Jul; 64(1):65-9. PubMed ID: 12791041
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]