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001-es BibID:	BIBFORM016513
Első szerző:	Appenzeller, Silke
Cím:	Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene / Silke Appenzeller, Anja Schirmacher, Hartmut Halfter, Sebastian Bäumer, Manuela Pendziwiat, Vincent Timmerman, Peter De Jonghe, Klára Fekete, Florian Stögbauer, Peter Lüdemann, Margret Hund, Elgar Susanne Quabius, E. Bernd Ringelstein, Gregor Kuhlenbäumer
Dátum:	2010
Megjegyzések:	Autosomal-dominant striatal degeneration (ADSD) is an autosomal-dominant movement disorder affecting the striatal part of the basalganglia. ADSD is characterized by bradykinesia, dysarthria, and muscle rigidity. These symptoms resemble idiopathic Parkinson disease,but tremor is not present. Using genetic linkage analysis, we have mapped the causative genetic defect to a 3.25 megabase candidateregion on chromosome 5q13.3-q14.1. A maximum LOD score of 4.1 (Q ? 0) was obtained at marker D5S1962. Here we show thatADSD is caused by a complex frameshift mutation (c.94G>Cc.95delT) in the phosphodiesterase 8B (PDE8B) gene, which resultsin a loss of enzymatic phosphodiesterase activity. We found that PDE8B is highly expressed in the brain, especially in the putamen,which is affected by ADSD. PDE8B degrades cyclic AMP, a second messenger implied in dopamine signaling. Dopamine is one ofthe main neurotransmitters involved in movement control and is deficient in Parkinson disease. We believe that the functionalanalysis of PDE8B will help to further elucidate the pathomechanism of ADSD as well as contribute to a better understanding of movementdisorders.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Acute Stroke Organized Stroke Care Stroke Care Thrombolysis Door-toneedle
Megjelenés:	The American Journal of Human Genetics. - 86 : 1 (2010), p. 83-87. -
További szerzők:	Schirmacher, Anja Halfter, Hartmut Bäumer, Sebastian Pendziwiat, Manuela Timmerman, Vincent De Jonghe, Peter Fekete Klára (1978-) (neurológus) Stögbauer, Florian Lüdemann, Peter Hund, Margret Quabius, Elgar Susanne Ringelstein, E. Bernd Kuhlenbäumer, Gregor
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001-es BibID:	BIBFORM031514
Első szerző:	Hoope, Richard R.
Cím:	Dent Disease with mutations in OCRL1 / Richard R. Hoopes, Antony E. Shrimpton, Stephen J. Knohl, Paul Hueber, Bernd Hoppe, Janos Matyus, Ari Simckes, Velibor Tasic, Burkhard Toenshoff, Sharon F. Suchy, Robert L. Nussbaum, Steven J. Scheinman
Dátum:	2005
Megjegyzések:	Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe syndrome, a multisystem disease characterized by renal tubulopathy, congenital cataracts, and mental retardation, is associated with mutations in the gene OCRL1, which encodes a phosphatidylinositol 4,5-bisphosphate (PIP(2)) 5-phosphatase. Genetic heterogeneity has been suspected in Dent disease, but no other gene for Dent disease has been reported. We studied male probands in 13 families, all of whom met strict criteria for Dent disease but lacked mutations in CLCN5. Linkage analysis in the one large family localized the gene to a candidate region at Xq25-Xq27.1. Sequencing of candidate genes revealed a mutation in the OCRL1 gene. Of the 13 families studied, OCRL1 mutations were found in 5. PIP(2) 5-phosphatase activity was markedly reduced in skin fibroblasts cultured from the probands of these five families, and protein expression, measured by western blotting, was reduced or absent. Slit-lamp examinations performed in childhood or adulthood for all five probands showed normal results. Unlike patients with typical Lowe syndrome, none of these patients had metabolic acidosis. Three of the five probands had mild mental retardation, whereas two had no developmental delay or behavioral disturbance. These findings demonstrate that mutations in OCRL1 can occur with the isolated renal phenotype of Dent disease in patients lacking the cataracts, renal tubular acidosis, and neurological abnormalities that are characteristic of Lowe syndrome. This observation confirms genetic heterogeneity in Dent disease and demonstrates more-extensive phenotypic heterogeneity in Lowe syndrome than was previously appreciated. It establishes that the diagnostic criteria for disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban külföldön készült közlemény
Megjelenés:	American Journal of Human Genetics. - 76 : 2 (2005), p. 260-267. -
További szerzők:	Shrimpton, Antony E. Knohl, Stephen J. Hueber, Paul Hoppe, Bernd Mátyus János (1957-) (belgyógyász, nephrológus) Simckes, Ari Tasic, Velibor Toenshoff, Burkhard Suchy, Sharon F. Nussbaum, Robert L. Scheinman, Steven J.
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001-es BibID:	BIBFORM040456
Első szerző:	Snoeckx, Rikkert L
Cím:	GJB2 Mutations and Degree of Hearing Loss : a Multicenter Study / Snoeckx R. L., Huygen P. L. M., Feldmann D., Marlin S., Denoyelle F., Waligora J., Mueller-Malesinska M., Pollak A., Ploski R., Murgia A., Orzan E., Castorina P., Ambrosetti U., Nowakowska-Szyrwinska E., Bal J., Wiszniewski W., Janecke A. R., Nekahm-Heis D., Seeman P., Bendova O., Kenna M. A., Frangulov A., Rehm H. L., Tekin M., Incesulu A., Dahl H. H. M., du Sart D., Jenkins L., Lucas D., Bitner-Glindzicz M., Avraham K. B., Brownstein Z., del Castillo I., Moreno F., Blin N., Pfister M., Sziklai I., Toth T., Kelley P. M., Cohn E. S., Van Maldergem L., Hilbert P., Roux A. F., Mondain M., Hoefsloot L. H., Cremers C. W., Löppönen T., Löppönen H., Parving A., Gronskov K., Schrijver I., Roberson J., Gualandi F., Martini A., Lina-Granade G., Pallares-Ruiz N., Correia C., Fialho G., Cryns K., Hilgert N., Van de Heyning P., Nishimura C. J., Smith R. J., Van Camp G.
Dátum:	2005
ISSN:	0002-9297
Megjegyzések:	Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutations, mutation analysis of this gene is widely available as a diagnostic test. In this study, we assessed the association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations. We performed cross-sectional analyses of GJB2 genotype and audiometric data from 1,531 persons, from 16 different countries, with autosomal recessive, mild-to-profound nonsyndromic HI. The median age of all participants was 8 years; 90% of persons were within the age range of 0-26 years. Of the 83 different mutations identified, 47 were classified as nontruncating, and 36 as truncating. A total of 153 different genotypes were found, of which 56 were homozygous truncating (T/T), 30 were homozygous nontruncating (NT/NT), and 67 were compound heterozygous truncating/nontruncating (T/NT). The degree of HI associated with biallelic truncating mutations was significantly more severe than the HI associated with biallelic nontruncating mutations (P<.0001). The HI of 48 different genotypes was less severe than that of 35delG homozygotes. Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB). Two genotypes--35delG/R143W (median 105 dB) and 35delG/dela(GJB6-D13S1830) (median 108 dB)--had significantly more-severe HI than that of 35delG homozygotes.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	American Journal Of Human Genetics. - 77 : 6 (2005), p. 945-957. -
További szerzők:	Huygen, Patrick L. M. Feldmann, Delphine Marlin, Sandrine Denoyelle, Francoise Waligora, Jaroslaw Mueller-Malesinska, Malgorzata Pollak, Agnieszka Ploski, Rafal Murgia, Alessandra Orzan, Eva Castorina, Pierangela Ambrosetti, Umberto Nowakowska-Szyrwinska, Ewa Bal, Jerzy Wiszniewski, Wojciech Janecke, Andreas Nekahm-Heis, Doris Seeman, Pavel Bendova, Olga Kenna, Margaret A. Frangulov, Anna Rehm, Heidi L. Tekin, Mustafa Incesulu, Armagan Dahl, Hans-Henrik M. du Sart, Desirée Jenkins, Lucy Lucas, Deirdre Bitner-Glindzicz, Maria Avraham, Karen B. Brownstein, Zippora Del Castillo, Ignacio Moreno, Felipe Blin, Nikolaus Pfister, Markus Sziklai István (1954-) (fül-orr-gégész) Tóth Tímea (1974-) (fül-orr-gégész) Kelley, Philip M. Cohn, Edward S. Van Maldergem, Lionel Hilbert, Pascale Roux, Anne-Francoise Mondain, Michel Hoefsloot, Lies H. Cremers, Cor W.R.J. Löppönen, Tuija Löppönen, Heikki Parving, Agnete Gronskov, Karen Schrijver, Iris Roberson, Joseph Gualandi, Francesca Martini, Alessandro Lina-Granade, Geneviéve Pallares-Ruiz, Nathalie Correia, Céu Fialho, Graca Cryns, Kim Hilgert, Nele Heyning, Paul, van de Nishimura, Carla J. Smith, Richard J. Camp, Guy, Van
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