92 related articles for article (PubMed ID: 34052664)
21. [Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene].
Petrina NE; Marakhonov AV; Zinchenko RA
Vestn Otorinolaringol; 2020; 85(4):65-69. PubMed ID: 32885640
[TBL] [Abstract][Full Text] [Related]
22. Expression pattern of the small muscle protein, X-linked (smpx) gene during zebrafish embryonic and larval developmental stages.
Ghilardi A; Diana A; Prosperi L; Del Giacco L
Gene Expr Patterns; 2020 Jun; 36():119110. PubMed ID: 32197943
[TBL] [Abstract][Full Text] [Related]
23. Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1.
DeSmidt AA; Zou B; Grati M; Yan D; Mittal R; Yao Q; Richmond MT; Denyer S; Liu XZ; Lu Z
Anat Rec (Hoboken); 2020 Mar; 303(3):544-555. PubMed ID: 30874365
[TBL] [Abstract][Full Text] [Related]
24. IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.
Brejchova K; Dudakova L; Skalicka P; Dobrovolny R; Masek P; Putzova M; Moosajee M; Tuft SJ; Davidson AE; Liskova P
Invest Ophthalmol Vis Sci; 2019 Jul; 60(8):3084-3090. PubMed ID: 31323090
[TBL] [Abstract][Full Text] [Related]
25. Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.
Weegerink NJ; Huygen PL; Schraders M; Kremer H; Pennings RJ; Kunst HP
Hear Res; 2011 Dec; 282(1-2):167-77. PubMed ID: 21893181
[TBL] [Abstract][Full Text] [Related]
26. Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art.
Nourbakhsh A; Colbert BM; Nisenbaum E; El-Amraoui A; Dykxhoorn DM; Koehler KR; Chen ZY; Liu XZ
J Assoc Res Otolaryngol; 2021 Apr; 22(2):95-105. PubMed ID: 33507440
[TBL] [Abstract][Full Text] [Related]
27. Verification of an iPSC line (LZUi002-A) from a patient with a novel mutation in the TBL1X gene.
Wang Y; Liu Z; Chen C; Li Y; Guan M; Xu B; Guo Y
Stem Cell Res; 2022 May; 61():102761. PubMed ID: 35339883
[TBL] [Abstract][Full Text] [Related]
28. Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
Tlili A; Charfedine I; Lahmar I; Benzina Z; Mohamed BA; Weil D; Idriss N; Drira M; Masmoudi S; Ayadi H
Hum Mutat; 2005 May; 25(5):503. PubMed ID: 15841483
[TBL] [Abstract][Full Text] [Related]
29. Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.
Bai X; Nian S; Feng L; Ruan Q; Luo X; Wu M; Yan Z
Mol Genet Genomic Med; 2019 Aug; 7(8):e808. PubMed ID: 31250571
[TBL] [Abstract][Full Text] [Related]
30. The nuclear receptor NOR-1 regulates the small muscle protein, X-linked (SMPX) and myotube differentiation.
Ferrán B; Martí-Pàmies I; Alonso J; Rodríguez-Calvo R; Aguiló S; Vidal F; Rodríguez C; Martínez-González J
Sci Rep; 2016 May; 6():25944. PubMed ID: 27181368
[TBL] [Abstract][Full Text] [Related]
31. A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Taghipour-Sheshdeh A; Nemati-Zargaran F; Zarepour N; Tahmasebi P; Saki N; Tabatabaiefar MA; Mohammadi-Asl J; Hashemzadeh-Chaleshtori M
Genomics; 2019 Jul; 111(4):840-848. PubMed ID: 29752989
[TBL] [Abstract][Full Text] [Related]
32. Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation.
Wen J; He C; Feng Y; Song J; Liu J; Liu X; Mei L; Ling J; Chen H; Liu Y
Stem Cell Res; 2021 May; 53():102300. PubMed ID: 33774334
[TBL] [Abstract][Full Text] [Related]
33. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.
Johari M; Sarparanta J; Vihola A; Jonson PH; Savarese M; Jokela M; Torella A; Piluso G; Said E; Vella N; Cauchi M; Magot A; Magri F; Mauri E; Kornblum C; Reimann J; Stojkovic T; Romero NB; Luque H; Huovinen S; Lahermo P; Donner K; Comi GP; Nigro V; Hackman P; Udd B
Acta Neuropathol; 2021 Aug; 142(2):375-393. PubMed ID: 33974137
[TBL] [Abstract][Full Text] [Related]
34. A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.
Nakazawa H; Yamaguchi T; Sakai H; Maruyama M; Kawakami T; Kawakami F; Nishina S; Ishikawa M; Kosho T; Ishida F
Int J Hematol; 2021 Aug; 114(2):286-291. PubMed ID: 33759087
[TBL] [Abstract][Full Text] [Related]
35. Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
Mutai H; Wasano K; Momozawa Y; Kamatani Y; Miya F; Masuda S; Morimoto N; Nara K; Takahashi S; Tsunoda T; Homma K; Kubo M; Matsunaga T
PLoS Genet; 2020 Apr; 16(4):e1008643. PubMed ID: 32294086
[TBL] [Abstract][Full Text] [Related]
36. Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss.
Hosoya M; Fujioka M; Sone T; Okamoto S; Akamatsu W; Ukai H; Ueda HR; Ogawa K; Matsunaga T; Okano H
Cell Rep; 2017 Jan; 18(1):68-81. PubMed ID: 28052261
[TBL] [Abstract][Full Text] [Related]
37. Overexpression of SMPX in adult skeletal muscle does not change skeletal muscle fiber type or size.
Eftestøl E; Alver TN; Gundersen K; Bruusgaard JC
PLoS One; 2014; 9(6):e99232. PubMed ID: 24936977
[TBL] [Abstract][Full Text] [Related]
38. A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population.
Ahmadmehrabi S; Li B; Hui D; Park J; Ritchie M; Rader DJ; Ruckenstein MJ; Epstein DJ; Brant J
Otolaryngol Head Neck Surg; 2022 Apr; 166(4):746-752. PubMed ID: 34281439
[TBL] [Abstract][Full Text] [Related]
39. [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].
Feng ML; Huang SS; Tang FZ; Zhang X; Li XH; Qiu SW; Yuan YY
Zhonghua Yi Xue Za Zhi; 2021 Jan; 101(2):115-121. PubMed ID: 33455126
[No Abstract] [Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]