Kramer, Franz-Josef

[["dc.bibliographiccitation.firstpage","1334"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","International Journal of Pediatric Otorhinolaryngology"],["dc.bibliographiccitation.lastpage","1338"],["dc.bibliographiccitation.volume","73"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Mende, Meinhard"],["dc.contributor.author","de Assis, Nilma Almeida"],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Lacava, Amalia Diaz"],["dc.contributor.author","Herms, Stefan"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Schiefke, Franziska"],["dc.contributor.author","Dunsche, Anton"],["dc.contributor.author","Martini, Markus"],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Mangold, Elisabeth"],["dc.date.accessioned","2018-11-07T11:23:45Z"],["dc.date.available","2018-11-07T11:23:45Z"],["dc.date.issued","2009"],["dc.description.abstract","Objective: Transforming growth factor-beta (TGF-beta) type 1 receptor (also known as activin receptor-like kinase 5, ALK5) is expressed in palatal tissue during embryogenesis. Experimental studies in transgenic mice with a genetic deletion of Alk5 showed that TGF-beta type 1 receptor is required for upper lip and midline fusion of the hard and soft palate. In humans, association of TGF-beta type 1 receptor gene (TGFBR1) and the development of non-syndromic cleft lip with or without cleft palate (NSCL/P) had been observed in a multiethnic sample of Chinese, Philippine, Indian and Turkish families. In order to re-evaluate the relevance of these findings, we carried out a family-based association study among 218 NSCL/P families of Central European descent. Methods: Genomic DNA was obtained from peripheral blood of 218 complete parent-offspring triads with NSCL/P. The sample comprised 14 patients with cleft lip only (CLO) and 204 patients with cleft lip and palate (CLP). Genotyping and transmission disequilibrium test (TDT) were performed on all 218 triads with a total of 17 tagging single-nucleotide polymorphisms (SNPs). We also performed testing for extended haplotypes and a log-linear model by Weinberg was used to screen parent-of-origin effects. Furthermore the use of estimates for the relative risks (RR) of Weinberg's model was obtained. Results: TDT analysis revealed no significant transmission distortion, neither at the level of individual markers nor at the level of haplotypes. Similarly negative results were obtained when we restricted our analysis to the subgroup of patients with CLP (n = 204). Relative risk calculations (RR) of the children's and mothers' genotypes obtained negative results, after correction of p-values for multiple testing. Likewise application of Weinberg's log-linear model did not find any evidence for parent-of-origin effects in our sample. Conclusion: Despite the ample evidence supporting the role of TGF-beta type 1 receptor as a critically important and widespread morphogenetic regulator of craniofacial development in murine models, our results do not support TGFBR I as major risk factor for NSCL/P in patients of Central European descent. (C) 2009 Elsevier Ireland Ltd. All rights reserved."],["dc.description.sponsorship","Deutsche Forschungsgemeinschaft; CNPq/Brazil"],["dc.identifier.doi","10.1016/j.ijporl.2009.06.004"],["dc.identifier.isi","000270252100004"],["dc.identifier.pmid","19586667"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/56257"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Ireland Ltd"],["dc.relation.issn","0165-5876"],["dc.title","Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","787"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","790"],["dc.bibliographiccitation.volume","146A"],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Saffar, Mitra"],["dc.contributor.author","Martinis, Markus"],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Henschke, Henning"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Mangold, Elisabeth"],["dc.date.accessioned","2018-11-07T11:17:06Z"],["dc.date.available","2018-11-07T11:17:06Z"],["dc.date.issued","2008"],["dc.identifier.doi","10.1002/ajmg.a.32219"],["dc.identifier.isi","000253650500015"],["dc.identifier.pmid","18247422"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/54734"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","324"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Dermatology"],["dc.bibliographiccitation.lastpage","328"],["dc.bibliographiccitation.volume","226"],["dc.contributor.author","Kaune, Kjell Matthias"],["dc.contributor.author","Haas, Ellen"],["dc.contributor.author","Jantke, Maren"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Gruber, Rudolf"],["dc.contributor.author","Thoms, Kai-Martin"],["dc.contributor.author","Zutt, Markus"],["dc.contributor.author","Schön, Michael P."],["dc.date.accessioned","2018-11-07T09:29:38Z"],["dc.date.available","2018-11-07T09:29:38Z"],["dc.date.issued","2013"],["dc.description.abstract","Background: Concepts of reconstruction of intraoral structures may often include the transfer of flaps composed of external skin with hairs. Given that intraoral hair growth following myocutaneous flaps can cause discomfort, there is a need for effective treatments to relieve cancer patients of these symptoms. Objective: To describe the successful epilation of hairy intraoral flaps using Nd:YAG laser emitting a wavelength of 1,064 nm. Methods: We performed an interdisciplinary prospective clinical study with 9 patients suffering from intraoral hair growth after plastic reconstruction of a hairy donor site due to cancer. Eight male and one female patients were treated with 1-4 sessions of Nd:YAG laser at 5-15-week intervals. Results: Laser treatment resulted in effective hair reduction in 8/9 patients regardless of flap type. In 5/9 patients a hair clearance of > 90% could be achieved, whereas laser treatment was ineffective in one male with white hair. Patients were very satisfied with the outcome and no side effects could be observed. Conclusion: Nd:YAG laser therapy appears to be a successful therapeutic option for patients suffering from growth of dark hair in the oral cavity after plastic reconstruction using a hairy donor site. (C) 2013 S. Karger AG, Basel"],["dc.identifier.doi","10.1159/000350685"],["dc.identifier.isi","000324547600007"],["dc.identifier.pmid","23838394"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/10820"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/31086"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","S. Karger AG"],["dc.relation.eissn","1421-9832"],["dc.relation.issn","1018-8665"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Successful Nd:YAG Laser Therapy for Hair Removal in the Oral Cavity after Plastic Reconstruction Using Hairy Donor Sites"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","471"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Clinical & Experimental Metastasis"],["dc.bibliographiccitation.lastpage","482"],["dc.bibliographiccitation.volume","30"],["dc.contributor.author","Bleckmann, Annalen"],["dc.contributor.author","Siam, Laila"],["dc.contributor.author","Klemm, Florian"],["dc.contributor.author","Rietkoetter, Eva"],["dc.contributor.author","Wegner, Christiane"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Beißbarth, Tim"],["dc.contributor.author","Binder, Claudia"],["dc.contributor.author","Stadelmann, Chr."],["dc.contributor.author","Pukrop, Tobias"],["dc.date.accessioned","2018-11-07T09:26:31Z"],["dc.date.available","2018-11-07T09:26:31Z"],["dc.date.issued","2013"],["dc.description.abstract","An essential function of the transcription factors LEF1/TCF4 in cerebral metastases of lung adenocarcinomas has been described in mouse models, suggesting a WNT/beta-catenin effect as potential mechanism. Their role in humans is still unclear, thus we analyzed LEF1, TCF4, beta-catenin, and early stage prognostic markers in 25 adenocarcinoma brain metastases using immunohistochemistry (IHC). IHC revealed nuclear TCF4 in all adenocarcinoma samples, whereas only 36 % depicted nuclear LEF1 and nuclear beta-catenin signals. Samples with nuclear LEF1 as well as high TCF4 (++++) expression were associated with a shorter survival (p = 0.01, HR = 6.68), while nuclear beta-catenin had no significant impact on prognosis and did not significantly correlate with nuclear LEF1. High proliferation index Ki67 was associated with shorter survival in late-stage disease (p = 0.03, HR 3.27). Additionally, we generated a LEF1/TCF4 as well as an AXIN2 signature, the latter as representative of WNT/beta-catenin activity, following a bioinformatics approach with a gene expression dataset of cerebral metastases in lung adenocarcinoma. To analyze the prognostic relevance in primary lung adenocarcinomas, we applied both signatures to a microarray dataset of 58 primary lung adenocarcinomas. Only the LEF1/TCF4 signature was able to separate clusters with impact on survival (p = 0.01, HR = 0.32). These clusters displayed diverging enrichment patterns of the cell cycle pathway. In conclusion, our data show that LEF1/TCF4, but not beta-catenin, have prognostic relevance in primary and cerebrally metastasized human lung adenocarcinomas. In contrast to the previous in vivo findings, these results indicate that LEF1/TCF4 act independently of beta-catenin in this setting."],["dc.identifier.doi","10.1007/s10585-012-9552-7"],["dc.identifier.isi","000317297400011"],["dc.identifier.pmid","23224985"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/10341"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/30319"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","1573-7276"],["dc.relation.issn","0262-0898"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Nuclear LEF1/TCF4 correlate with poor prognosis but not with nuclear beta-catenin in cerebral metastasis of lung adenocarcinomas"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2680"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","2694"],["dc.bibliographiccitation.volume","149A"],["dc.contributor.author","Mangold, Elisabeth"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Walier, Maja"],["dc.contributor.author","Mattheisen, Manuel"],["dc.contributor.author","Henschke, Henning"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Schiefke, Franziska"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Martini, Markus"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Krimmel, Michael"],["dc.contributor.author","Opitz, Charlotte"],["dc.contributor.author","Lenz, Jan-Hendrik"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Lacava, Amalia Diaz"],["dc.date.accessioned","2018-11-07T11:21:12Z"],["dc.date.available","2018-11-07T11:21:12Z"],["dc.date.issued","2009"],["dc.description.abstract","Orofacial clefts are among the most common of all congenital disorders. Nonsyndromic cases of cleft lip with or without cleft palate (NSCL/P) and cleft palate only (NSCPO) are considered to have a multifactorial etiology which involves both genetic and environmental factors. We present the results of a genome-wide linkage scan in 91 families of central European descent with nonsyndromic orofacial clefts (NSC). The sample included 74 NSCL/P families, 15 NSCPO families, and 2 mixed families (a total of 217 affected and 230 unaffected individuals were genotyped). We genotyped 542 microsatellite markers (average intermarker distance = 6.9 cM). Multipoint nonparametric linkage analysis was performed using Allegro 2.0f. In addition to the factors investigated in previous genome-wide linkage analyses, we searched for sex-specific susceptibility loci, loci demonstrating parental imprinting and loci that are shared by NSCL/P and NSCPO. Several genomic regions likely to contain susceptibility loci for NSC were identified at the level of nominal significance. Some of these overlap with regions identified in previous studies. Suggestive evidence of linkage was obtained for the loci 4q21-q26 and 1p31-p21, with the chromosome 1 locus showing a male-specific genetic effect. Our study has identified promising chromosomal regions for the identification of NSC-associated genes, and demonstrates the importance of performing detailed statistical analyses which take into account complex genetic mechanisms such as sex-specific effects and genomic imprinting. Further research in large patient samples is necessary to identify factors common to NSCL/P and NSCPO. (C) 2009 Wiley-Liss, Inc."],["dc.description.sponsorship","Deutsche Forschungsgemeinschaft [FOR 423]"],["dc.identifier.doi","10.1002/ajmg.a.33136"],["dc.identifier.isi","000272535000009"],["dc.identifier.pmid","19938073"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/55721"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Genome-Wide Linkage Scan of Nonsyndromic Orofacial Clefting in 91 Families of Central European Origin"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","580"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Journal of Craniofacial Surgery"],["dc.bibliographiccitation.lastpage","587"],["dc.bibliographiccitation.volume","19"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Gruber, Rudolf"],["dc.contributor.author","Fialka, Florian"],["dc.contributor.author","Sinikovic, Branko"],["dc.contributor.author","Schliephake, Henning"],["dc.date.accessioned","2018-11-07T11:15:37Z"],["dc.date.available","2018-11-07T11:15:37Z"],["dc.date.issued","2008"],["dc.description.abstract","Children with orofacial clefts (OFC) at preschool ages may have to tolerate psychosocial disadvantages due to their altered speech and facial appearance probably affecting their quality of life (QoL) and family functioning. In 147 children with OFC aged between 5 and 6 years and their families, the QoL and family functioning were analyzed using the KINDL questionnaire for measuring health-related QoL in children and impact on family scale. The KINDL scores were lowest in the dimension self-esteem. In all dimensions, the KINDL scores of children were higher than those of the parents suggesting a superior QoL than the care-givers estimated (P < 0.001). In affected families, the impact on family scale dimensions personal impact and impact on coping strategies were found highest. Families having children with isolated cleft lip or cleft lip and palate had higher impacts on coping strategies when compared with children having isolated cleft palate (P < 0.041). The impact for siblings (P < 0.02) was found highest in patients with cleft lip and palate. In all examined dimensions, children with OFC perceived a higher QoL than their caregivers expected. However, self-esteem seems to be problematic in all types of OFC and in both genders. Knowledge of potential impacts related to the type of cleft and the gender of the patient will probably facilitate health care professionals to identify children and families at high risk to experience a reduced QoL and may help to offer specific support and treatment strategies."],["dc.identifier.doi","10.1097/SCS.0b013e31816aaa43"],["dc.identifier.isi","000256245100005"],["dc.identifier.pmid","18520368"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/54405"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.issn","1049-2275"],["dc.title","Quality of life and family functioning in children with nonsyndromic orofacial clefts at preschool ages"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","766"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","European Journal Of Oral Sciences"],["dc.bibliographiccitation.lastpage","769"],["dc.bibliographiccitation.volume","117"],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Ludwig, Kerstin U."],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Herms, Stefan"],["dc.contributor.author","de Assis, Nilma Almeida"],["dc.contributor.author","Diaz-Lacava, Amalia"],["dc.contributor.author","Barth, Sandra"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Saffar, Mitra"],["dc.contributor.author","Martini, Markus"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Schiefke, Franziska"],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Poetzsch, Simone"],["dc.contributor.author","Poetzsch, Bernd"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Mangold, Elisabeth"],["dc.date.accessioned","2018-11-07T11:21:26Z"],["dc.date.available","2018-11-07T11:21:26Z"],["dc.date.issued","2009"],["dc.description.abstract","Variants in the interferon regulatory factor 6 (IRF6) gene have repeatedly been associated with non-syndromic cleft lip with or without cleft palate (NSCL/P). A recent study has suggested that the functionally relevant variant rs642961 is the underlying cause of the observed associations. We genotyped rs642961 in our Central European case-control sample of 460 NSCL/P patients and 952 controls. In order to investigate whether other IRF6 variants contribute independently to the etiology of NSCL/P, we also genotyped the non-synonymous coding variant V274I (rs2235371) and five IRF6-haplotype tagging single nucleotide polymorphisms (SNPs). A highly significant result was observed for rs642961 (P = 1.44 x 10-6) in our sample. The odds ratio was 1.75 [95% confidence interval (CI): 1.38-2.22] for the heterozygous genotype and 1.94 (95% CI: 1.21-3.10) for the homozygous genotype, values that are similar to those reported in a previously published family-based study. Our results thus confirm the involvement of the IRF6 variant, rs642961, in the etiology of NSCL/P in the Central European population. We also found evidence suggestive of an independent protective effect of the coding variant V274I. In order to understand fully the genetic architecture of the IRF6 locus, it will be necessary to conduct additional SNP-based and resequencing studies using large samples of patients."],["dc.identifier.isi","000271780500019"],["dc.identifier.pmid","20121942"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/55769"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell Publishing, Inc"],["dc.relation.issn","0909-8836"],["dc.title","IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","373"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","European Journal Of Oral Sciences"],["dc.bibliographiccitation.lastpage","377"],["dc.bibliographiccitation.volume","120"],["dc.contributor.author","Mangold, Elisabeth"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Leon-Cachon, Rafael B. R."],["dc.contributor.author","Ludwig, Kerstin U."],["dc.contributor.author","Herms, Stefan"],["dc.contributor.author","Chacon-Camacho, Oscar"],["dc.contributor.author","Ortiz-Lopez, Rocio"],["dc.contributor.author","Paredes-Zenteno, Mario"],["dc.contributor.author","Arizpe-Cantu, Abelardo"],["dc.contributor.author","Munoz-Jimenez, Sergio G."],["dc.contributor.author","Nowak, Stefanie"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Rojas-Martinez, Augusto"],["dc.date.accessioned","2018-11-07T09:05:21Z"],["dc.date.available","2018-11-07T09:05:21Z"],["dc.date.issued","2012"],["dc.description.abstract","Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the Philippines and South America. In the South American patients, the association was driven by the subgroup of patients with non-syndromic cleft lip only (NSCLO). Here we investigated the association with rs2843159 in a Mayan Mesoamerican population (172 NSCL/P patients and 366 controls). In addition, we analyzed the phenotypic subgroups NSCLO and non-syndromic cleft of lip and palate (NSCLP). A trend towards association between rs2843159 and NSCL/P was observed in the Mayan cohort (P = 0.097), and we found a stronger association in the NSCLP subgroup (P = 0.072) despite a limited sample size. To investigate whether other common variants within the SKI gene contribute to NSCL/P susceptibility in European and Asian populations, we also analyzed genotypic data from two recent genome-wide association studies using set-based statistical approaches. These analyses detected a trend toward association in the European population. Our data provide limited support for the hypothesis that common SKI variants are susceptibility factors for NSCL/P."],["dc.identifier.doi","10.1111/j.1600-0722.2012.00991.x"],["dc.identifier.isi","000308929800001"],["dc.identifier.pmid","22984993"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/25295"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","0909-8836"],["dc.title","Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","49"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","International Journal of Pediatric Otorhinolaryngology"],["dc.bibliographiccitation.lastpage","52"],["dc.bibliographiccitation.volume","75"],["dc.contributor.author","de Assis, Nilma Almeida"],["dc.contributor.author","Nowak, Stefanie"],["dc.contributor.author","Ludwig, Kerstin U."],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Vollmer, Jennifer"],["dc.contributor.author","Hellmann, Stefanie"],["dc.contributor.author","Kluck, Nadine"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Mangold, Elisabeth"],["dc.date.accessioned","2018-11-07T09:01:28Z"],["dc.date.available","2018-11-07T09:01:28Z"],["dc.date.issued","2011"],["dc.description.abstract","Objective: Studies in mice and humans have suggested that SUMO1, which codes for the small ubiquitin-related modifier 1 (SUMO1), is a promising candidate gene for non-syndromic cleft lip with or without cleft palate (NSCL/P). To investigate the possible involvement of this gene in NSCL/P patients from Central Europe, we performed: (i) a case control association study, and (ii) a resequencing study. Methods: Genotyping and the subsequent single marker and haplotype association analyses were performed for 413 NSCL/P patients and 412 controls. A total of 17 tagging single-nucleotide polymorphisms (SNPs) were used. In the resequencing study, the complete coding region and splice sites were sequenced in 65 index patients from multiply affected families. Results: One of the 17 tested SNPs (rs16838917) had a borderline significant P-value of 0.0416 in the single-marker association analysis. However, this result did not withstand correction for multiple testing (P(corr) = 0.707). No association was observed for any haplotypic marker combination. Sequencing failed to identify any novel rare sequence variants. Conclusions: The results of the present study do not support the hypothesis that common or rare variants in SUMO1 play a significant role in the development of NSCL/P in Central-European patients. However, smaller effects of common variants or the presence of rare high penetrance mutations in other non-investigated familial cases cannot be excluded. Further analysis of SUMO1 in independent samples from Central European and other populations is therefore warranted. (C) 2010 Elsevier Ireland Ltd. All rights reserved."],["dc.identifier.doi","10.1016/j.ijporl.2010.10.005"],["dc.identifier.isi","000287065800009"],["dc.identifier.pmid","21044801"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/24434"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Ireland Ltd"],["dc.relation.issn","0165-5876"],["dc.title","SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: No evidence for the involvement of common or rare variants in Central European patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","715"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","International Journal of Oral and Maxillofacial Surgery"],["dc.bibliographiccitation.lastpage","721"],["dc.bibliographiccitation.volume","34"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Baethge, Carola"],["dc.contributor.author","Swennen, G."],["dc.contributor.author","Bremer, B."],["dc.contributor.author","Schwestka-Polly, R."],["dc.contributor.author","Dempf, R."],["dc.date.accessioned","2018-11-07T10:55:22Z"],["dc.date.available","2018-11-07T10:55:22Z"],["dc.date.issued","2005"],["dc.description.abstract","Aim of this study was to determine the success of implants that were inserted in patients with cleft of the lip, alveolus and palate (CLAP) and to identify prognosis-relevant factors. In a prospective evaluation, 75 implants inserted in combination with bone grafting at cleft sites of 45 patients were examined. The observation period extended 5.5 years in average (minimum 1.5, maximum 11.3 years). Implant success was evaluated clinically and radiographically and was compared to age- and gender-matched control groups. Statistic assessment included Kaplan-Meier survival analysis, Log rank tests and Cox regression analysis. In total, 10 implants were lost in 8 patients, resulting in an implant survival rate of 82.2% at the end of the observation period. Patient-related parameters of age, gender or type of cleft had no significant influence. The length of an implant was significantly related to an improved survival rate (P < 0.01). Implant survival was less in CLAP patients when compared to implant insertions in a non-cleft control group, but improved when compared to patients with bone grafting for other indications. It is concluded that implants combined with bone grafting can offer a reliable alternative in patients with CLAP."],["dc.identifier.doi","10.1016/j.ijom.2005.04.014"],["dc.identifier.isi","000232382300002"],["dc.identifier.pmid","16157247"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/49768"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Churchill Livingstone"],["dc.relation.issn","0901-5027"],["dc.title","Dental implants in patients with orofacial clefts: a long-term follow-up study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]