Richard Kellermayer

Summary

Country: Hungary

Publications

  1. ncbi request reprint Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae
    Richard Kellermayer
    Department of Medical Genetics, University of Pecs, József A u 7, 7623 Pecs, Hungary
    FEBS Lett 579:2021-5. 2005
  2. ncbi request reprint A patient with Rothmund-Thomson syndrome and all features of RAPADILINO
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, Pecs, Hungary
    Arch Dermatol 141:617-20. 2005
  3. ncbi request reprint A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, József A u 7, 7623, Pecs, Hungary
    J Hum Genet 51:495-7. 2006
  4. ncbi request reprint The intracellular dissipation of cytosolic calcium following glucose re-addition to carbohydrate depleted Saccharomyces cerevisiae
    Richard Kellermayer
    Department of Medical Genetics and Child Development Medicine, University of Pecs, Szigeti ut 12, 7623 Pecs, Hungary
    FEBS Lett 571:55-60. 2004
  5. ncbi request reprint Translational readthrough induction of pathogenic nonsense mutations
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, József A u 7, 7623 Pecs, Hungary
    Eur J Med Genet 49:445-50. 2006
  6. ncbi request reprint Alpha-thalassemia/mental retardation syndrome in a 45,X male
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, Hungary
    Am J Med Genet A 132:431-3. 2005
  7. ncbi request reprint Electrically induced gel-to-gel phase-transition in neurons
    Richard Kellermayer
    Department of Neurosurgery, Pecs University, H 7623 Pecs, Ret utca 2, Hungary
    Cell Biol Int 30:175-82. 2006
  8. ncbi request reprint A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis
    Richard Kellermayer
    Department of Medical Genetics, University of Pecs, Pecs, Hungary
    Diagn Mol Pathol 14:159-63. 2005
  9. doi request reprint A cryptic unbalanced translocation resulting in del 13q and dup 15q
    Alexandra Teszas
    Department of Medical Genetics and Child Development, University of Pecs, Hungary
    Am J Med Genet A 146:2570-3. 2008
  10. ncbi request reprint Lithium suppresses epidermal SERCA2 and PMR1 levels in the rat
    Norbert Sule
    Department of Pathology, University of Pecs, Pecs, Hungary
    Pathol Oncol Res 12:234-6. 2006

Collaborators

Detail Information

Publications28

  1. ncbi request reprint Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae
    Richard Kellermayer
    Department of Medical Genetics, University of Pecs, József A u 7, 7623 Pecs, Hungary
    FEBS Lett 579:2021-5. 2005
    ..cerevisiae has proved to be a valuable tool to screen ATP2C1 mutations and address potential pathogenic/pharmacologic mechanisms in HHD. Consequently, this human skin disorder is an ideal example of an orthodisease...
  2. ncbi request reprint A patient with Rothmund-Thomson syndrome and all features of RAPADILINO
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, Pecs, Hungary
    Arch Dermatol 141:617-20. 2005
    ..While many features of the 2 genetic disorders overlap, poikiloderma--a hallmark of RTS--has been described as generally absent in RAPADILINO syndrome...
  3. ncbi request reprint A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, József A u 7, 7623, Pecs, Hungary
    J Hum Genet 51:495-7. 2006
    ....
  4. ncbi request reprint The intracellular dissipation of cytosolic calcium following glucose re-addition to carbohydrate depleted Saccharomyces cerevisiae
    Richard Kellermayer
    Department of Medical Genetics and Child Development Medicine, University of Pecs, Szigeti ut 12, 7623 Pecs, Hungary
    FEBS Lett 571:55-60. 2004
    ..A model where pH dependent cytosolic calcium buffering plays an important role in the dissipation of the TECC in Saccharomyces cerevisiae is proposed...
  5. ncbi request reprint Translational readthrough induction of pathogenic nonsense mutations
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, József A u 7, 7623 Pecs, Hungary
    Eur J Med Genet 49:445-50. 2006
    ..Aminoglycosides were the first drugs that gave promising results in this respect. This report provides a brief overview on the past, present and potential future of this pharmacogenetic approach...
  6. ncbi request reprint Alpha-thalassemia/mental retardation syndrome in a 45,X male
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, Hungary
    Am J Med Genet A 132:431-3. 2005
    ..A male with a 45,X karyotype as a result of a unique, submicroscopic, unbalanced Y;16 translocation is presented with alpha-thalassemia/mental retardation syndrome...
  7. ncbi request reprint Electrically induced gel-to-gel phase-transition in neurons
    Richard Kellermayer
    Department of Neurosurgery, Pecs University, H 7623 Pecs, Ret utca 2, Hungary
    Cell Biol Int 30:175-82. 2006
    ....
  8. ncbi request reprint A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis
    Richard Kellermayer
    Department of Medical Genetics, University of Pecs, Pecs, Hungary
    Diagn Mol Pathol 14:159-63. 2005
    ..The present findings further support the functional importance of the putative DNA binding activity of the SRY HMG-box domain...
  9. doi request reprint A cryptic unbalanced translocation resulting in del 13q and dup 15q
    Alexandra Teszas
    Department of Medical Genetics and Child Development, University of Pecs, Hungary
    Am J Med Genet A 146:2570-3. 2008
  10. ncbi request reprint Lithium suppresses epidermal SERCA2 and PMR1 levels in the rat
    Norbert Sule
    Department of Pathology, University of Pecs, Pecs, Hungary
    Pathol Oncol Res 12:234-6. 2006
    ..Lithium therapy should specifically be avoided not only in Darier disease, but Hailey-Hailey disease as well...
  11. ncbi request reprint Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation
    Katalin Komlosi
    Department of Medical Genetics and Child Development, University of Pecs, Pecs, H 7624, Hungary
    Pathol Oncol Res 11:82-6. 2005
    ..The unusual manifestations associated with this mutation somewhat differentiate this family from the already known variants...
  12. ncbi request reprint The versatile RECQL4
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University of Pecs, Hungary
    Genet Med 8:213-6. 2006
    ..Consequently, it is especially difficult to draw precise genotype-phenotype correlations in RECQL4 related syndromes. This is likely due to the complex and multiple cellular networks RECQL4 is associated with...
  13. ncbi request reprint [Cutis marmorata telangiectatica congenita--case report]
    Edina Flach
    Pecsi Tudomanyegyetem, Általános Orvostudományi Kar, Szülészeti és Nőgyógyászati Klinika, NIC, Pecs, Edesanyak utja 17, 7624
    Orv Hetil 148:1717-20. 2007
    ..No associated anomalies were detected. The relevant literature is also reviewed...
  14. ncbi request reprint Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia
    Richard Kellermayer
    Department of Medical Genetics and Child Development, University Medical School of Pecs, József A u 7, Pecs 7623, Hungary
    Eur J Dermatol 15:75-9. 2005
    ..Our findings suggest that GJA1 mutations can produce variable clinical phenotypes on the background of sequence variants in other connexins...
  15. ncbi request reprint High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation
    Nora Kovacs
    Department of Pediatrics, University of Pecs, Pecs, Hungary
    Am J Med Genet A 140:2816-8. 2006
  16. ncbi request reprint Presenile cataract: consider cholestanol
    Alexandra Teszas
    Department of Medical Genetics and Child Develoment, University of Pecs, Hungary
    Arch Ophthalmol 124:1490-2. 2006
  17. ncbi request reprint Autosomal-dominant calcium ATPase disorders
    Reka Szigeti
    1Department of Dermatology, University of Pecs, Pecs, Hungary
    J Invest Dermatol 126:2370-6. 2006
    ..It is concluded that epidermal Ca2+ regulation disturbances and epigenetic factors may play an even more prominent role in the pathogenesis of DD and HHD than earlier appreciated...
  18. ncbi request reprint Expanding the clinical spectrum of MYCN-related Feingold syndrome
    Alexandra Teszas
    Am J Med Genet A 140:2254-6. 2006
  19. ncbi request reprint Calcium and magnesium competitively influence the growth of a PMR1 deficient Saccharomyces cerevisiae strain
    Reka Szigeti
    Central Laboratory, County Hospital of Baranya, Hungary
    FEMS Microbiol Lett 251:333-9. 2005
    ..Our findings indicate that extracellular Ca2+ and Mg2+ competitively influence the intracellular Ca2+ homeostasis of S. cerevisiae. These observations may further our understanding of HHD...
  20. ncbi request reprint Hailey-Hailey disease and calcium: lessons from yeast
    Reka Szigeti
    J Invest Dermatol 123:1195-6. 2004
  21. ncbi request reprint Aminoglycosides as potential pharmacogenetic agents in the treatment of Hailey-Hailey disease
    Richard Kellermayer
    J Invest Dermatol 126:229-31. 2006
  22. ncbi request reprint Vertebral defects in a patient with Feingold syndrome
    Richard Kellermayer
    Clin Dysmorphol 14:213-4. 2005
  23. ncbi request reprint Extracellular Ca(2+) sensing contributes to excess Ca(2+) accumulation and vacuolar fragmentation in a pmr1Delta mutant of S. cerevisiae
    Richard Kellermayer
    Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    J Cell Sci 116:1637-46. 2003
    ..This suggests that vacuolar fragmentation might function as a normal physiological response to Ca(2+) stress that increases the vacuolar surface/volume ratio, thereby maximizing the sequestration of this important signaling molecule...
  24. ncbi request reprint Congenital chylothorax in Opitz G/BBB syndrome
    Simone Funke
    Am J Med Genet A 140:1119-21. 2006
  25. ncbi request reprint Mos 46,XX,r(18).ish r(18)(18ptel-,18qtel-)/46,XX.ish del(18)(18ptel-): an example for successive ring chromosome formation
    Richard Kellermayer
    Am J Med Genet A 139:234-5. 2005
  26. ncbi request reprint Genetic drift. Physiologic noise obscures genotype-phenotype correlations
    Richard Kellermayer
    Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030 2399, USA
    Am J Med Genet A 143:1306-7. 2007
  27. ncbi request reprint Upper gastrointestinal malformations in Coffin-Siris syndrome
    Richard Kellermayer
    Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, 6621 Fannin Street, Houston, TX 77030, USA
    Am J Med Genet A 143:1519-21. 2007
  28. ncbi request reprint Hailey-Hailey disease from a clinical perspective
    Richard Kellermayer
    Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030 2399, USA
    Cell Calcium 43:105-6. 2008