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Genomes and Genes | P M KelleySummaryAffiliation: Boys Town National Research Hospital Country: USA Publications
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Publications
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing lossP 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...
Connexin 26: required for normal auditory functionP 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...- Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12P 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... - Analysis of DNA elements that modulate myosin VIIA expression in humansD 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... - Erratum: analysis of DNA elements that modulate myosin VIIa expression in humansD 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... - 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... - Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITFS 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.... - Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing lossZ 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... - Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5qS 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... - OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy alleleR 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... - Myosin VIIA mutation screening in 189 Usher syndrome type 1 patientsM 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... - Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 familiesP J Coucke
Department of Medical Genetics, University of Antwerp UIA, Universiteitsplein 1, 2610 Antwerp, Belgium
Hum Mol Genet 8:1321-8. 1999.... - Prevalent connexin 26 gene (GJB2) mutations in JapaneseS 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... - Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1BZ 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... - Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutationS Abe
Department of Otorhinolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan
Am J Med Genet 103:334-8. 2001.... - Reading disability and chromosome 6p21.3: evaluation of MOG as a candidate geneS 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... - Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) geneR Varga
J Med Genet 40:45-50. 2003 - Characterization of the maize pyruvate decarboxylase geneP M Kelley
School of Biological Sciences, University of Nebraska, Lincoln 68588-0118
Plant Mol Biol 17:1259-61. 1991 - Maize pyruvate decarboxylase mRNA is induced anaerobicallyP 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... - Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32J 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... - Detailed map of a region commonly amplified at 11q13-->q14 in human breast carcinomaS 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... - Characterization of a maize cDNA that complements an enolase-deficient mutant of Escherichia coliS 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...