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FOXF2 is required f...
FOXF2 is required for cochlear development in humans and mice.
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Bademci, Guney (author)
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Abad, Clemer (author)
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Incesulu, Armagan (author)
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Elian, Fahed (author)
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- Reyahi, Azadeh (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kemi och molekylärbiologi,Department of Chemistry and Molecular Biology
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Diaz-Horta, Oscar (author)
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Cengiz, Filiz B (author)
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Sineni, Claire J (author)
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Seyhan, Serhat (author)
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Atli, Emine Ikbal (author)
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Basmak, Hikmet (author)
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Demir, Selma (author)
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- Nik, Ali Moussavi (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kemi och molekylärbiologi,Department of Chemistry and Molecular Biology
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Footz, Tim (author)
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Guo, Shengru (author)
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Duman, Duygu (author)
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Fitoz, Suat (author)
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Gurkan, Hakan (author)
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Blanton, Susan H (author)
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- Carlsson, Peter, 1959 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kemi och molekylärbiologi,Department of Chemistry and Molecular Biology
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Walz, Katherina (author)
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Tekin, Mustafa (author)
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(creator_code:org_t)
- 2018-12-17
- 2019
- English.
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In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 28:8, s. 1286-1297
- Related links:
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https://europepmc.or...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Molecular mechanisms governing the development of the human cochlea remain largely unknown. Through genome sequencing, we identified a homozygous FOXF2 variant c.325A>T (p.I109F) in a child with profound sensorineural hearing loss associated with incomplete partition type I anomaly of the cochlea. This variant is not found in public databases or in over 1,000 ethnicity-matched control individuals. I109 is a highly conserved residue in the forkhead box (Fox) domain of FOXF2, a member of the Fox protein family of transcription factors that regulate the expression of genes involved in embryogenic development as well as adult life. Our in vitro studies show that the half-life of mutant FOXF2 is reduced compared to that of wildtype. Foxf2 is expressed in the cochlea of developing and adult mice. The mouse knockout of Foxf2 shows shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Expressions of Eya1 and Pax3, genes essential for cochlear development, are reduced in the cochleae of Foxf2 knockout mice. We conclude that FOXF2 plays a major role in cochlear development and its dysfunction leads to sensorineural hearing loss and developmental anomalies of the cochlea in humans and mice.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Biokemi och molekylärbiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Biochemistry and Molecular Biology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Utvecklingsbiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Developmental Biology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Cellbiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Cell Biology (hsv//eng)
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- ref (subject category)
- art (subject category)
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- By the author/editor
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Bademci, Guney
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Abad, Clemer
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Incesulu, Armaga ...
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Elian, Fahed
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Reyahi, Azadeh
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Diaz-Horta, Osca ...
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show more...
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Cengiz, Filiz B
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Sineni, Claire J
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Seyhan, Serhat
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Atli, Emine Ikba ...
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Basmak, Hikmet
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Demir, Selma
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Nik, Ali Moussav ...
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Footz, Tim
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Guo, Shengru
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Duman, Duygu
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Fitoz, Suat
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Gurkan, Hakan
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Blanton, Susan H
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Carlsson, Peter, ...
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Walz, Katherina
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Tekin, Mustafa
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Biochemistry and ...
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Developmental Bi ...
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Cell Biology
- Articles in the publication
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Human molecular ...
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University of Gothenburg