P M Kelley

Summary

Affiliation: Boys Town National Research Hospital
Country: USA

Publications

  1. pmc Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
    P M Kelley
    Center for the Study of Hereditary Hearing Loss, Boys Town National Research Hospital, Omaha, NE, USA
    Am J Hum Genet 62:792-9. 1998
  2. ncbi request reprint Connexin 26: required for normal auditory function
    P M Kelley
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, NE 68131, USA
    Brain Res Brain Res Rev 32:184-8. 2000
  3. ncbi request reprint Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12
    P M Kelley
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Genomics 62:172-6. 1999
  4. ncbi request reprint Analysis of DNA elements that modulate myosin VIIA expression in humans
    D J Orten
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital Omaha, NE 68131, USA
    Hum Mutat 14:354. 1999
  5. ncbi request reprint Erratum: analysis of DNA elements that modulate myosin VIIa expression in humans
    D J Orten
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital Omaha, NE, USA
    Hum Mutat 15:114-5. 2000
  6. ncbi request reprint The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)
    P M Kelley
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Genomics 40:73-9. 1997
  7. pmc Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
    S D Smith
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, 555 North 30th Street, Omaha, NE 68131, USA
    J Med Genet 37:446-8. 2000
  8. ncbi request reprint Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss
    Z Talebizadeh
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska
    Hum Mutat 14:493-501. 1999
  9. pmc Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q
    S Pieke-Dahl
    Genetics Department, Boys Town National Research Hospital, 555 N 30th Street, Omaha, NE 68131 USA
    J Med Genet 37:256-62. 2000
  10. pmc OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
    R Varga
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital BTNRH, Omaha, NE, USA
    J Med Genet 43:576-81. 2006

Collaborators

Detail Information

Publications22

  1. pmc Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
    P M Kelley
    Center for the Study of Hereditary Hearing Loss, Boys Town National Research Hospital, Omaha, NE, USA
    Am J Hum Genet 62:792-9. 1998
    ..This allele was found in a recessive family segregating independently from the hearing-loss phenotype and in 3 of 192 control chromosomes. These results indicate that 101T-->C is not sufficient to cause hearing loss...
  2. ncbi request reprint Connexin 26: required for normal auditory function
    P M Kelley
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, NE 68131, USA
    Brain Res Brain Res Rev 32:184-8. 2000
    ..It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders...
  3. ncbi request reprint Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12
    P M Kelley
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Genomics 62:172-6. 1999
    ..In addition, 23 dominant hearing loss families and 6 singleton families presumed to be recessive were tested. No significant mutation has been found in the dominant or recessive families...
  4. ncbi request reprint Analysis of DNA elements that modulate myosin VIIA expression in humans
    D J Orten
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital Omaha, NE 68131, USA
    Hum Mutat 14:354. 1999
    ..These observations suggest either 1) linkage disequilibrium or 2)that a combination of a promoter mutation with a less active myosin VIIa protein results in USH1B...
  5. ncbi request reprint Erratum: analysis of DNA elements that modulate myosin VIIa expression in humans
    D J Orten
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital Omaha, NE, USA
    Hum Mutat 15:114-5. 2000
    ..These observations suggest either 1) linkage disequilibrium or 2)that a combination of a promoter mutation with a less active myosin VIIa protein results in USH1B...
  6. ncbi request reprint The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A)
    P M Kelley
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    Genomics 40:73-9. 1997
    ..Alternatively spliced products were transcribed from the MYO7A gene: the largest transcript (7.4 kb) contains 49 exons. The MYO7A gene is relatively large, spanning approximately 120 kb of genomic DNA on chromosome 11q13...
  7. pmc Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
    S D Smith
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, 555 North 30th Street, Omaha, NE 68131, USA
    J Med Genet 37:446-8. 2000
    ....
  8. ncbi request reprint Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss
    Z Talebizadeh
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska
    Hum Mutat 14:493-501. 1999
    ..Mutation analysis of KCNQ4 was also performed on 80 unrelated probands from families with recessive or dominant nonsyndromic hearing loss. None of these cases showed a truncated mutation in KCNQ4...
  9. pmc Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q
    S Pieke-Dahl
    Genetics Department, Boys Town National Research Hospital, 555 N 30th Street, Omaha, NE 68131 USA
    J Med Genet 37:256-62. 2000
    ..Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II...
  10. pmc OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
    R Varga
    Center for Hereditary Communication Disorders, Boys Town National Research Hospital BTNRH, Omaha, NE, USA
    J Med Genet 43:576-81. 2006
    ..Among the second tier genetic causes of hearing loss in children are mutations in the DFNB9/OTOF gene...
  11. pmc Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
    M D Weston
    Department of Genetics, Boys Town National Research Hospital, University of Nebraska Medical Center, Omaha, USA
    Am J Hum Genet 59:1074-83. 1996
    ..These results add three patients to single case reported previously where mutations have been found in both alleles and raises the total number of unique mutations in MYO7A to 16...
  12. ncbi request reprint Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families
    P J Coucke
    Department of Medical Genetics, University of Antwerp UIA, Universiteitsplein 1, 2610 Antwerp, Belgium
    Hum Mol Genet 8:1321-8. 1999
    ....
  13. pmc Prevalent connexin 26 gene (GJB2) mutations in Japanese
    S Abe
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, 5 Zaifu cho, Hirosaki 036 8562, Japan
    J Med Genet 37:41-3. 2000
    ..Surprisingly, the 35delG mutation, which is the most common GJB2 mutation in white subjects, was not found in the present study. Our data indicated that specific combinations of GJB2 mutation exist in different populations...
  14. ncbi request reprint Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B
    Z Y Chen
    Department of Neurobiology, Massachusetts General Hospital, Boston, USA
    Genomics 36:440-8. 1996
    ..Each repeat contains a novel "MyTH4" domain similar to domains in three other myosins, and a domain similar to the membrane-associated portion of talin and other members of the band-4.1 family...
  15. ncbi request reprint Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation
    S Abe
    Department of Otorhinolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan
    Am J Med Genet 103:334-8. 2001
    ....
  16. ncbi request reprint Reading disability and chromosome 6p21.3: evaluation of MOG as a candidate gene
    S D Smith
    Center for Human Molecular Genetics, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha 68198-5455, USA
    J Learn Disabil 34:512-9. 2001
    ..Thus, although alleles in the MOG gene may be in linkage disequilibrium with a locus that contributes to reading disability, it is unlikely that the MOG gene itself is involved...
  17. pmc Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene
    R Varga
    J Med Genet 40:45-50. 2003
  18. ncbi request reprint Characterization of the maize pyruvate decarboxylase gene
    P M Kelley
    School of Biological Sciences, University of Nebraska, Lincoln 68588 0118
    Plant Mol Biol 17:1259-61. 1991
  19. ncbi request reprint Maize pyruvate decarboxylase mRNA is induced anaerobically
    P M Kelley
    School of Biological Sciences, University of Nebraska, Lincoln 68588 0118
    Plant Mol Biol 13:213-22. 1989
    ..Northern-blot analysis shows that PDC mRNA is anaerobically induced. Southern-blot analysis of maize genomic DNA indicated that the maize PDC gene has a single or low copy number...
  20. ncbi request reprint Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198, USA
    Genomics 43:104-6. 1997
    ..The human homologue of Echinoderm microtubule-associated protein defines a novel human gene. We propose that the human EMAP is a strong candidate for the USH1a gene based on its genomic location and the proposed function of the protein...
  21. ncbi request reprint Detailed map of a region commonly amplified at 11q13-->q14 in human breast carcinoma
    S Bekri
    Instabilité et Altérations des Génomes, UNSA CNRS UMR 6549, Nice, France
    Cytogenet Cell Genet 79:125-31. 1997
    ..The map reported here represents an indispensable step toward sequencing the entire region, and thus toward uncovering gene(s) which play(s) a critical role in breast cancer progression...
  22. ncbi request reprint Characterization of a maize cDNA that complements an enolase-deficient mutant of Escherichia coli
    S K Lal
    School of Biological Sciences, University of Nebraska, Lincoln 68588 0118
    Plant Mol Biol 16:787-95. 1991
    ..Southern-blot analysis of maize genomic DNA indicated that there is one copy of the pZM245 hybridizing sequence per haploid genome in maize...