Compounds > leucine

leucine and Deafness

leucine has been researched along with Deafness in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19901 (16.67)18.7374
1990's0 (0.00)18.2507
2000's2 (33.33)29.6817
2010's3 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Cheng, X; Huang, L; Wang, X; Wen, C; Zhao, X1
Idrees, H; Mujtaba, G; Naz, S; Ramzan, M; Sobreira, N; Witmer, PD1
Feng, Y; Geng, X; Jia, W; Jiang, Z; Li, F; Lu, H; Wang, C; Wei, X; Yan, J; Zhang, Y1
Burke, DW; Butler, MG; Campbell, CA; Chang, EH; Forrester, S; Hoppe, JE; Schneider, MC; Smith, LL; Smith, RJ; Vore, AP1
Coucke, PJ; Cremers, CW; Ensink, RJ; Huygen, P; Van Camp, G; Van Hauwe, P1
Albert, J; Collombel, C; David, M; Guerrier, G; Guibaud, P; Jeune, M; Michel, M1

Other Studies

6 other study(ies) available for leucine and Deafness

ArticleYear
Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct.
    Bioscience trends, 2018, Volume: 12, Issue:5

    Topics: Asian People; China; Deafness; DNA Mutational Analysis; Family Health; Female; Frameshift Mutation; Genotype; Healthy Volunteers; Hearing; Hearing Loss; Heterozygote; Humans; Infant, Newborn; Leucine; Male; Mutation; Pedigree; Phenotype; Sulfate Transporters; Vestibular Aqueduct

2018
Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss.
    Gene, 2019, Jul-15, Volume: 705

    Topics: Age of Onset; Consanguinity; Deafness; Exome Sequencing; Female; Genetic Heterogeneity; Genetic Predisposition to Disease; Humans; KCNQ Potassium Channels; Leucine; Male; Mutation, Missense; Pedigree; Proline

2019
De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome.
    Journal of diabetes research, 2019, Volume: 2019

    Topics: Adenosine Triphosphate; Adult; Aged; Aged, 80 and over; Deafness; Diabetes Mellitus, Type 2; DNA, Mitochondrial; Family Health; Female; Genetic Predisposition to Disease; Humans; Leucine; Leukocytes, Mononuclear; Magnetic Resonance Imaging; Male; Middle Aged; Mitochondrial Diseases; Mutation; Pedigree; Phenotype; Point Mutation; Reactive Oxygen Species; RNA, Transfer; Sequence Analysis, DNA

2019
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.
    Archives of otolaryngology--head & neck surgery, 2005, Volume: 131, Issue:12

    Topics: Chromosome Deletion; Chromosome Segregation; Deafness; Female; Genetic Diseases, X-Linked; Humans; Leucine; Male; Mutation, Missense; Pedigree; POU Domain Factors; Sensory Thresholds; Serine; Temporal Bone; Tomography, X-Ray Computed

2005
Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.
    American journal of medical genetics, 2000, Jul-31, Volume: 93, Issue:3

    Topics: Amino Acid Sequence; Base Sequence; Chromosomes, Human, Pair 1; Connexins; Deafness; DNA Mutational Analysis; Exons; Genes, Dominant; Genetic Linkage; Histidine; Humans; KCNQ Potassium Channels; Leucine; Models, Biological; Molecular Sequence Data; Mutation; Mutation, Missense; Potassium Channels; Potassium Channels, Voltage-Gated; Sequence Homology, Amino Acid

2000
[Hyperleucinisoleucinemia due to partial transamination defect associated with type 2 hyperprolinemia. Familial case of double aminoacidopathy].
    Annales de pediatrie, 1970, Feb-02, Volume: 17, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Auditory Cortex; Child, Preschool; Deafness; Electroencephalography; Evoked Potentials; Female; Humans; Infant; Isoleucine; Leucine; Leukocytes; Male; Proline; Retinal Degeneration; Transaminases

1970