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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

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

Event: Veröffentlichung

(where): Würzburg

(who): Universität Würzburg

(when): 2023

Creator: 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

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:45 AM CEST

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Associated

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

Time of origin

2023

Other Objects (12)

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

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Sensorineural hearing loss and equilibrium disturbances

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

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

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

Loss-of-function uORF mutations in human malignancies

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

Konferenzschrift | Kongress

Sensorineural hearing loss and equilibrium disturbances

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

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

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

Loss-of-function uORF mutations in human malignancies

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

Konferenzschrift | Kongress

Sensorineural hearing loss and equilibrium disturbances

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

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

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

Loss-of-function uORF mutations in human malignancies

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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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Other Objects (12)

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

Sensorineural hearing loss and equilibrium disturbances

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

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

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

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

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

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

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

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

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

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