Novel loss-of-function variants in CDC14A are associated with recessive sensorineural hearing loss in Iranian and Pakistani patients

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Standort: Deutsche Nationalbibliothek Frankfurt am Main

Umfang: Online-Ressource

Sprache: Englisch

Erschienen in: In: International Journal of Molecular Sciences (2020) 21:1, 311. https://doi.org/10.3390/ijms21010311

Ereignis: Veröffentlichung

(wo): Würzburg

(wer): Universität Würzburg

(wann): 2023

Urheber: Doll, Julia
Kolb, Susanne
Schnapp, Linda
Rad, Aboulfazl
Rüschendorf, Franz
Khan, Imran
Adli, Abolfazl
Hasanzadeh, Atefeh
Liedtke, Daniel
Knaup, Sabine
Hofrichter, Michaela AH
Müller, Tobias
Dittrich, Marcus
Kong, Il-Keun
Kim, Hyung-Goo
Haaf, Thomas
Vona, Barbara

DOI: 10.3390/ijms21010311

URN: urn:nbn:de:bvb:20-opus-285142

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Letzte Aktualisierung: 14.08.2025, 10:45 MESZ

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Beteiligte

Doll, Julia
Kolb, Susanne
Schnapp, Linda
Rad, Aboulfazl
Rüschendorf, Franz
Khan, Imran
Adli, Abolfazl
Hasanzadeh, Atefeh
Liedtke, Daniel
Knaup, Sabine
Hofrichter, Michaela AH
Müller, Tobias
Dittrich, Marcus
Kong, Il-Keun
Kim, Hyung-Goo
Haaf, Thomas
Vona, Barbara
Universität Würzburg

Entstanden

2023

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Sudden Sensorineural Hearing Loss Due to Drug Abuse

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Novel loss-of-function variants in CDC14A are associated with recessive sensorineural hearing loss in Iranian and Pakistani patients

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Ähnliche Objekte (12)

Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

Sensorineural hearing loss and equilibrium disturbances

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

Weather conditions and sudden sensorineural hearing loss

MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population

Sudden Sensorineural Hearing Loss Due to Drug Abuse

Hemi- and homozygous loss-of-function mutations in DSG2 (desmoglein-2) cause recessive arrhythmogenic cardiomyopathy with an early onset

Patients with non-idiopathic sudden sensorineural hearing loss show hearing improvement more often than patients with idiopathic sudden sensorineural hearing loss

Patients with non-idiopathic sudden sensorineural hearing loss show hearing improvement more often than patients with idiopathic sudden sensorineural hearing loss

Loss-of-function uORF mutations in human malignancies

Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

Sensorineural hearing loss and equilibrium disturbances

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

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MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population

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Hemi- and homozygous loss-of-function mutations in DSG2 (desmoglein-2) cause recessive arrhythmogenic cardiomyopathy with an early onset

Patients with non-idiopathic sudden sensorineural hearing loss show hearing improvement more often than patients with idiopathic sudden sensorineural hearing loss

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Loss-of-function uORF mutations in human malignancies

Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

Sensorineural hearing loss and equilibrium disturbances

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

Weather conditions and sudden sensorineural hearing loss

MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population

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Hemi- and homozygous loss-of-function mutations in DSG2 (desmoglein-2) cause recessive arrhythmogenic cardiomyopathy with an early onset

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