proline has been researched along with Deafness in 13 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 9 (69.23) | 18.7374 |
| 1990's | 1 (7.69) | 18.2507 |
| 2000's | 2 (15.38) | 29.6817 |
| 2010's | 1 (7.69) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Idrees, H; Mujtaba, G; Naz, S; Ramzan, M; Sobreira, N; Witmer, PD | 1 |
| PERKOFF, GT | 1 |
| Bartles, JR; Changyaleket, B; Loomis, PA; Mugnaini, E; Sekerková, G; Whitlon, DS; Zheng, L | 1 |
| Bartles, JR; Loomis, PA; Mugnaini, E; Sekerková, G; Zheng, L | 1 |
| Bom, SJ; Brunner, HG; Brunt, TM; Cremers, CW; Cremers, FP; de Kok, YJ; Huygen, PL; Kemperman, MH; Morton, CC; Robertson, NG; van Beusekom, E; van der Velde-Visser, SD; Verhagen, WI | 1 |
| Blehová, B; Hyánek, J; Jirásek, J; Păzoutová, N | 1 |
| Harris, JA; Snyder, CH; Woody, NC | 1 |
| Albert, J; Collombel, C; David, M; Guerrier, G; Guibaud, P; Jeune, M; Michel, M | 1 |
| Chapelle, P; Hainaut, H; Hariga, J; Heusden, A; Willems, C | 1 |
| Durant, JL; Elsas, LJ; Rosenberg, LE | 1 |
| Burke, J; Burkholder, P; Goyer, RA; Reynolds, J | 1 |
| Fraser, GR; Friedmann, AI; Patton, VM; Wade, DN; Woolf, LI | 1 |
| Antener, I; Dubach, UC; Minder, FC | 1 |
2 review(s) available for proline and Deafness
| Article | Year |
|---|---|
FAMILIAL ASPECTS OF DIFFUSE RENAL DISEASES.
Topics: Amyloidosis; Angiokeratoma; Blood; Congenital Abnormalities; Deafness; Genetics, Medical; Hematuria; Humans; Hydroxyproline; Kidney; Kidney Diseases; Nephritis; Paralyses, Familial Periodic; Polycystic Kidney Diseases; Proline; Skin Neoplasms; Urticaria | 1964 |
Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli.
Topics: Actin Cytoskeleton; Animals; Calcium; Cilia; Deafness; Hair Cells, Auditory; Humans; Mice; Microfilament Proteins; Microvilli; Neurons, Afferent; Phosphatidylinositol 4,5-Diphosphate; Proline; Protein Isoforms | 2006 |
11 other study(ies) available for proline and Deafness
| Article | Year |
|---|---|
Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss.
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 |
Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cells.
Topics: Actins; Animals; Animals, Newborn; Blotting, Western; Calcium; Chemoreceptor Cells; Cytoskeletal Proteins; Deafness; Female; Fluorescent Antibody Technique; Hair Cells, Auditory; Immunoenzyme Techniques; Immunohistochemistry; Male; Mechanoreceptors; Mice; Mice, Inbred Strains; Microfilament Proteins; Microvilli; Polymers; Proline; Protein Isoforms; Rats; Rats, Sprague-Dawley; Signal Transduction; Transfection; Type C Phospholipases; Vestibular Diseases | 2004 |
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
Topics: Age of Onset; Amino Acid Substitution; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 14; Deafness; DNA; DNA Mutational Analysis; Extracellular Matrix Proteins; Female; Genes, Dominant; Genetic Linkage; Hearing Loss, Sensorineural; Humans; Male; Microsatellite Repeats; Pedigree; Point Mutation; Proline; Proteins; Serine; Vestibular Diseases | 1999 |
Iminoglycinuria in a child in Czechoslovakia.
Topics: Amino Acid Metabolism, Inborn Errors; Cerebrospinal Fluid Proteins; Deafness; Female; Glycine; Humans; Hydroxyproline; Infant; Intelligence; Intestinal Absorption; Male; Pedigree; Proline; Seizures; Time Factors | 1973 |
Hyperprolinemia: clinical and biochemical family study.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Brain; Bronchopneumonia; Central Nervous System Diseases; Consanguinity; Deafness; Glycine; Heterozygote; Humans; Hydronephrosis; Hydroxyproline; Infant, Newborn; Male; Nephritis; Pedigree; Proline; Pyelonephritis | 1969 |
[Hyperleucinisoleucinemia due to partial transamination defect associated with type 2 hyperprolinemia. Familial case of double aminoacidopathy].
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 |
[Familial essential hyperprolinemia].
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Deafness; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Kidney Diseases; Male; Pedigree; Proline; Psychomotor Disorders | 1971 |
Familial iminoglycinuria. An inborn error of renal tubular transport.
Topics: Adult; Child; Chromosome Aberrations; Chromosome Disorders; Deafness; Female; Genotype; Glycine; Heterozygote; Homozygote; Humans; Hydroxyproline; Intellectual Disability; Intestinal Absorption; Kidney Function Tests; Male; Proline; Renal Tubular Transport, Inborn Errors | 1968 |
Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Consanguinity; Deafness; Female; Genes; Humans; Ichthyosis; Kidney Calculi; Male; Nephritis; Polycystic Kidney Diseases; Proline | 1968 |
Iminoglycinuria--a "harmless" inborn error of metabolism?
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Blindness; Consanguinity; Deafness; Glycine; Humans; Hydroxyproline; Male; Proline; Retina | 1968 |
[Hereditary nephropathy and hardness of hearing (with metabolic disorders of amino acids and fats in a family from Switzerland)].
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Deafness; Dwarfism; Electrophoresis; Female; Glomerulonephritis; Glycine; Hematuria; Humans; Hydroxyproline; Kidney Failure, Chronic; Lipid Metabolism, Inborn Errors; Male; Metrorrhagia; Middle Aged; Proline; Switzerland | 1965 |