EGF c.68_69delinsAT ;(p.P23H)

Variant ID: 4-110834559-CG-AT

NM_001963.4(EGF):c.68_69delinsAT;(p.P23H)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss.

Frontiers In Cell And Developmental Biology
Huang, Yanxia Y; Yuan, Lamei L; He, Guiyun G; Cao, Yanna Y; Deng, Xiong X; Deng, Hao H
Publication Date: 2023

Variant appearance in text: EGF: P23H
PubMed Link: 36875754
Variant Present in the following documents:
  • fcell-11-1129862.pdf
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Role of Curcumin in Retinal Diseases-A review.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
Chandrasekaran, Priya R PR; Madanagopalan, V G VG
Publication Date: 2022-05

Variant appearance in text: EGF: P23H
PubMed Link: 35015114
Variant Present in the following documents:
  • Main text
  • 417_2021_Article_5542.pdf
View BVdb publication page



Looking for In Vitro Models for Retinal Diseases.

International Journal Of Molecular Sciences
Alfonsetti, Margherita M; Castelli, Vanessa V; d'Angelo, Michele M; Benedetti, Elisabetta E; Allegretti, Marcello M; Barboni, Barbara B; Cimini, Annamaria A
Publication Date: 2021-09-25

Variant appearance in text: EGF: P23H
PubMed Link: 34638674
Variant Present in the following documents:
  • Main text
  • ijms-22-10334.pdf
View BVdb publication page



Recent Advances and Disputes About Curcumin in Retinal Diseases.

Clinical Ophthalmology (Auckland, N.Z.)
Nebbioso, Marcella M; Franzone, Federica F; Greco, Antonio A; Gharbiya, Magda M; Bonfiglio, Vincenza V; Polimeni, Antonella A
Publication Date: 2021

Variant appearance in text: EGF: P23H
PubMed Link: 34177257
Variant Present in the following documents:
  • Main text
  • opth-15-2553.pdf
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A Review on Mesenchymal Stem Cells for Treatment of Retinal Diseases.

Stem Cell Reviews And Reports
Adak, Sanjucta S; Magdalene, Damaris D; Deshmukh, Saurabh S; Das, Dipankar D; Jaganathan, Bithiah Grace BG
Publication Date: 2021-08

Variant appearance in text: EGF: Pro23His
PubMed Link: 33410097
Variant Present in the following documents:
  • Main text
  • 12015_2020_Article_10090.pdf
View BVdb publication page



A Review on Mesenchymal Stem Cells for Treatment of Retinal Diseases.

Stem Cell Reviews And Reports
Adak, Sanjucta S; Magdalene, Damaris D; Deshmukh, Saurabh S; Das, Dipankar D; Jaganathan, Bithiah Grace BG
Publication Date: 2021-08

Variant appearance in text: EGF: Pro23His
PubMed Link: 33410097
Variant Present in the following documents:
  • Main text
  • 12015_2020_Article_10090.pdf
View BVdb publication page



Potential Endogenous Cell Sources for Retinal Regeneration in Vertebrates and Humans: Progenitor Traits and Specialization.

Biomedicines
Grigoryan, Eleonora N EN
Publication Date: 2020-07-12

Variant appearance in text: EGF: P23H
PubMed Link: 32664635
Variant Present in the following documents:
  • biomedicines-08-00208.pdf
View BVdb publication page



Mesenchymal stem cell surgery, rescue and regeneration in retinitis pigmentosa: clinical and rehabilitative prognostic aspects.

Restorative Neurology And Neuroscience
Limoli, Paolo Giuseppe PG; Limoli, Celeste Silvana Serena CSS; Morales, Marco Ulises MU; Vingolo, Enzo Maria EM
Publication Date: 2020

Variant appearance in text: EGF: P23H
PubMed Link: 32310198
Variant Present in the following documents:
  • rnn-38-rnn190970.pdf
View BVdb publication page



Stem Cell Surgery and Growth Factors in Retinitis Pigmentosa Patients: Pilot Study after Literature Review.

Biomedicines
Limoli, Paolo Giuseppe PG; Vingolo, Enzo Maria EM; Limoli, Celeste C; Nebbioso, Marcella M
Publication Date: 2019-11-30

Variant appearance in text: EGF: P23H
PubMed Link: 31801246
Variant Present in the following documents:
  • Main text
  • biomedicines-07-00094.pdf
View BVdb publication page



Gene Editing Preserves Visual Functions in a Mouse Model of Retinal Degeneration.

Frontiers In Neuroscience
Vagni, Paola P; Perlini, Laura E LE; Chenais, Naïg A L NAL; Marchetti, Tommaso T; Parrini, Martina M; Contestabile, Andrea A; Cancedda, Laura L; Ghezzi, Diego D
Publication Date: 2019

Variant appearance in text: EGF: P23H
PubMed Link: 31551698
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Milled Microdevice to Advance Glia-Mediated Therapies in the Adult Nervous System.

Micromachines
Peña, Juan S JS; Robles, Denise D; Zhang, Stephanie S; Vazquez, Maribel M
Publication Date: 2019-07-31

Variant appearance in text: EGF: P23H
PubMed Link: 31370352
Variant Present in the following documents:
  • micromachines-10-00513.pdf
View BVdb publication page



Novel stem cell and gene therapy in diabetic retinopathy, age related macular degeneration, and retinitis pigmentosa.

International Journal Of Retina And Vitreous
Ludwig, Parker E PE; Freeman, S Caleb SC; Janot, Adam C AC
Publication Date: 2019

Variant appearance in text: EGF: Pro23His
PubMed Link: 30805203
Variant Present in the following documents:
  • 40942_2019_Article_158.pdf
View BVdb publication page



MicroRNA-28 potentially regulates the photoreceptor lineage commitment of Müller glia-derived progenitors.

Scientific Reports
Ji, Hong-Pei HP; Xiong, Yu Y; Song, Wei-Tao WT; Zhang, En-Dong ED; Gao, Zhao-Lin ZL; Yao, Fei F; Su, Tao T; Zhou, Rong-Rong RR; Xia, Xiao-Bo XB
Publication Date: 2017-09-12

Variant appearance in text: EGF: P23H
PubMed Link: 28900179
Variant Present in the following documents:
  • 41598_2017_Article_11112.pdf
View BVdb publication page



Non-viral therapeutic approaches to ocular diseases: An overview and future directions.

Journal Of Controlled Release : Official Journal Of The Controlled Release Society
Zulliger, Rahel R; Conley, Shannon M SM; Naash, Muna I MI
Publication Date: 2015-12-10

Variant appearance in text: EGF: P23H
PubMed Link: 26439665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of the influence of Arg555Trp and Thr538Pro TGFBI mutations on C-terminal cleavage and cell endoplasmic reticulum stress.

Molecular Vision
Zhu, Miaomiao M; Yu, Ping P; Jiang, Bo B; Gu, Yangshun Y
Publication Date: 2012

Variant appearance in text: EGF: Pro23His
PubMed Link: 22605926
Variant Present in the following documents:
  • Main text
  • mv-v18-1156.pdf
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Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fate.

Investigative Ophthalmology & Visual Science
Canola, Kriss K; Angénieux, Brigitte B; Tekaya, Meriem M; Quiambao, Alexander A; Naash, Muna I MI; Munier, Francis L FL; Schorderet, Daniel F DF; Arsenijevic, Yvan Y
Publication Date: 2007-01

Variant appearance in text: EGF: P23H
PubMed Link: 17197566
Variant Present in the following documents:
  • Main text
View BVdb publication page



Persistent progenitors at the retinal margin of ptc+/- mice.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Moshiri, Ala A; Reh, Thomas A TA
Publication Date: 2004-01-07

Variant appearance in text: EGF: Pro23his
PubMed Link: 14715955
Variant Present in the following documents:
  • Main text
View BVdb publication page



In vitro generation of early-born neurons from late retinal progenitors.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
James, Jackson J; Das, Ani V AV; Bhattacharya, Sumitra S; Chacko, David M DM; Zhao, Xing X; Ahmad, Iqbal I
Publication Date: 2003-09-10

Variant appearance in text: EGF: P23H
PubMed Link: 12967980
Variant Present in the following documents:
  • Main text
View BVdb publication page