Experts and Doctors on phenotype in Freiburg, Baden Württemberg, Germany

Summary

Locale: Freiburg, Baden Württemberg, Germany
Topic: phenotype

Top Publications

  1. Pawlu C, Bausch B, Neumann H. Mutations of the SDHB and SDHD genes. Fam Cancer. 2005;4:49-54 pubmed
    ..As routine diagnostic procedure all SDH mutation carriers should have urine catecholamine analysis as well as pelvic, abdominal, thoracic and skull/neck MRI. ..
  2. Goerke S, Plaha J, Hager S, Strassburg S, Torio Padron N, Stark G, et al. Human endothelial progenitor cells induce extracellular signal-regulated kinase-dependent differentiation of mesenchymal stem cells into smooth muscle cells upon cocultivation. Tissue Eng Part A. 2012;18:2395-405 pubmed publisher
    ..In conclusion, our study has shown that EPCs from adult peripheral blood as well as from cord blood commit cocultivated MSCs toward an SMC/pericyte phenotype in a cell-contact- and ERK-dependent manner. ..
  3. Hammerschmidt M, Mullins M. Dorsoventral patterning in the zebrafish: bone morphogenetic proteins and beyond. Results Probl Cell Differ. 2002;40:72-95 pubmed
  4. Kurz T, Strauch K, Dietrich H, Braun S, Hierl S, Jerkic S, et al. Multilocus haplotype analyses reveal association between 5 novel IL-15 polymorphisms and asthma. J Allergy Clin Immunol. 2004;113:896-901 pubmed
    ..0232 for the atopic versus the control population by using FAMHAP. These results strongly underscore previous findings that suggest a potential role of this cytokine in allergic diseases. ..
  5. Marcolino I, Przybylski G, Koschella M, Schmidt C, Voehringer D, Schlesier M, et al. Frequent expression of the natural killer cell receptor KLRG1 in human cord blood T cells: correlation with replicative history. Eur J Immunol. 2004;34:2672-80 pubmed
    ..Thus, analysis of KLRG1 expression in cord blood revealed an unexpected heterogeneity of human T cells in newborns. ..
  6. Schäfer M, Altevogt P. L1CAM malfunction in the nervous system and human carcinomas. Cell Mol Life Sci. 2010;67:2425-37 pubmed publisher
    ..We further discuss how the available data on gene regulation, molecular interactions and posttranslational processing of L1 may contribute to a better understanding of associated neurological and cancerous diseases. ..
  7. Meinicke H, Bremser A, Brack M, Schrenk K, Pircher H, Izcue A. KLRG1 impairs regulatory T-cell competitive fitness in the gut. Immunology. 2017;152:65-73 pubmed publisher
    ..Hence, although absence of KLRG1 is not enough to increase intestinal Treg cells in KLRG1 knockout mice, KLRG1 ligation reduces T-cell receptor signals and the competitive fitness of individual Treg cells in the intestine. ..
  8. Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, et al. Genotype and phenotype spectrum of NRAS germline variants. Eur J Hum Genet. 2017;25:823-831 pubmed publisher
    ..With this report, we expand the genotype and phenotype spectrum of RASopathy-associated germline NRAS variants and provide evidence that NRAS variants do not spare the cancer-associated mutation hotspots. ..
  9. Prasse A, Katic C, Germann M, Buchwald A, Zissel G, Müller Quernheim J. Phenotyping sarcoidosis from a pulmonary perspective. Am J Respir Crit Care Med. 2008;177:330-6 pubmed
    ..The described SCAC protocol is practicable and gives additional information not yet acquired by radiologic typing and seems suitable for studies evaluating genetic influence and biomarkers. ..

More Information

Publications121 found, 100 shown here

  1. Arnold A, Bruckner Tuderman L, Has C, Happle R. Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects). Br J Dermatol. 2012;166:1309-13 pubmed publisher
    ..Because the clinical outcome and prognosis are different it is important to distinguish between males with CHH syndrome that represents a mosaic phenotype, and those with MEND syndrome that is a nonmosaic trait. ..
  2. Herbst S, Proepper C, Geis T, Borggraefe I, Hahn A, Debus O, et al. LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain Dev. 2016;38:399-406 pubmed publisher
    ..Phenobarbital and vigabatrin achieved good or partial response in 62-83% of the patients. Our findings suggest that patients with LIS1-associated lissencephaly might benefit most from lamotrigine, valproate, vigabatrin or phenobarbital. ..
  3. Minnerop M, Kurzwelly D, Wagner H, Soehn A, Reichbauer J, Tao F, et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017;140:1561-1578 pubmed publisher
    ..Furthermore, our results demonstrate that substantial progress in revealing the causes of Mendelian diseases can be made by exploring the non-coding sequences of the human genome. ..
  4. Wallin J, Wilting J, Koseki H, Fritsch R, Christ B, Balling R. The role of Pax-1 in axial skeleton development. Development. 1994;120:1109-21 pubmed
    ..Our observations suggest that Pax-1 function is required for essential steps in ventral sclerotome differentiation, i.e. for the transition from the mesenchymal stage to the onset of chondrogenesis. ..
  5. Haegel H, Larue L, Ohsugi M, Fedorov L, Herrenknecht K, Kemler R. Lack of beta-catenin affects mouse development at gastrulation. Development. 1995;121:3529-37 pubmed
    ..Our results demonstrate that, although beta-catenin is expressed rather ubiquitously, it is specifically required in the ectodermal cell layer. ..
  6. Schumann H, Has C, Kohlhase J, Bruckner Tuderman L. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. Br J Dermatol. 2008;159:464-9 pubmed publisher
    ..DEB-Pr develops as a result of COL7A1 gene mutations and acquired phenotype-modifying factors. Filaggrin mutations did not contribute to the pruriginous phenotype in the present patient cohort. ..
  7. Heinemann A, He Y, Zimina E, Boerries M, Busch H, Chmel N, et al. Induction of phenotype modifying cytokines by FERMT1 mutations. Hum Mutat. 2011;32:397-406 pubmed publisher
    ..These data are concordant with a model wherein repeated cycles of epidermal cell stress, cytokine secretion, dermal inflammation, and profibrotic processes underlie mucocutaneous fibrosis in KS. ..
  8. Röseler S, Sandrock K, Bartsch I, Busse A, Omran H, Loges N, et al. Lethal phenotype of mice carrying a Sept11 null mutation. Biol Chem. 2011;392:779-81 pubmed publisher
    ..Interestingly, mice that harbor a homozygous Sept11 null mutation, die in utero. From day 11.5 post coitum onwards, development of homozygous embryos seems to be retarded and the embryos from day 13.5 onwards were dead. ..
  9. Foos G, Grimm S, Klempnauer K. The chicken A-myb protein is a transcriptional activator. Oncogene. 1994;9:2481-8 pubmed
    ..Thus, our results support the idea that A-myb is a functional equivalent of c-myb. ..
  10. Gutzeit H, Arendt D. Blocked endocytotic uptake by the oocyte causes accumulation of vitellogenins in the haemolymph of the female-sterile mutants quitPX61 and stand stillPS34 of Drosophila. Cell Tissue Res. 1994;275:291-8 pubmed
    ..Furthermore, genetic chimeras of stil show that the activity of the stil gene is required in the germline cells and not in the somatic tissues. ..
  11. Ritter M, Ali M, Grimm C, Weth R, Mohr L, Bocher W, et al. Immunoregulation of dendritic and T cells by alpha-fetoprotein in patients with hepatocellular carcinoma. J Hepatol. 2004;41:999-1007 pubmed
  12. Lee C, Fu H, Baratang N, Rousseau J, Kumra H, Sutton V, et al. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017;101:815-823 pubmed publisher
    ..In summary, FN1 mutations that cause defective fibronectin secretion are found in SMD, and we thus provide additional evidence for a critical function of fibronectin in cartilage and bone. ..
  13. He Y, Esser P, Heinemann A, Bruckner Tuderman L, Has C. Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification. Am J Pathol. 2011;178:975-82 pubmed publisher
    ..This first example of environmental regulation of kindlin expression has implications for phenotype modulation in Kindler syndrome, a skin disorder caused by kindlin-1 deficiency. ..
  14. Borozdin W, Graham J, Böhm D, Bamshad M, Spranger S, Burke L, et al. Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay. Hum Mutat. 2007;28:830 pubmed
    ..Since two of the four cases presented with choanal atresia, large deletions including SALL4 should be considered in the differential diagnosis of children with suspected CHARGE syndrome but without detectable CHD7 mutations. ..
  15. Saridaki A, Ferraz C, Demaille J, Scherer G, Roux A. Genomic sequencing reveals the structure of the Kcnk6 and map3k11 genes and their close vicinity to the sipa1 gene on mouse chromosome 19. Cytogenet Cell Genet. 2000;89:85-8 pubmed
    ..No Dc-causing mutation in the Kcnk6 coding region could be identified. However, we detected a polymorphism in the Kcnk6 gene that leads to a C-terminal extension of the encoded protein by eight amino acids. ..
  16. Martin P, Wallich R, Pardo J, Mullbacher A, Munder M, Modolell M, et al. Quiescent and activated mouse granulocytes do not express granzyme A and B or perforin: similarities or differences with human polymorphonuclear leukocytes?. Blood. 2005;106:2871-8 pubmed
    ..The data indicate that polymorphonuclear leukocytes from mice and humans lack the 3 cytotoxic effector molecules, gzmA, gzmB, and perf, generally associated with natural killer and cytotoxic T lymphocytes. ..
  17. Rischke H, Benz M, Wild D, Mix M, Dumont R, Campbell D, et al. Correlation of the genotype of paragangliomas and pheochromocytomas with their metabolic phenotype on 3,4-dihydroxy-6-18F-fluoro-L-phenylalanin PET. J Nucl Med. 2012;53:1352-8 pubmed publisher
    ..Furthermore, we assessed whether the genotypes of pheochromocytomas and paragangliomas correlate with the uptake of (18)F-DOPA...
  18. Hammerschmidt M, Kramer C, Nowak M, Herzog W, Wittbrodt J. Loss of maternal Smad5 in zebrafish embryos affects patterning and morphogenesis of optic primordia. Dev Dyn. 2003;227:128-33 pubmed
    ..They can be best explained with a model according to which zebrafish eye morphogenesis occurs as a telescopic extension of disc-like, concentric primordia, similar to the development of appendages from imaginal discs in Drosophila. ..
  19. Zieger B, Jenny A, Tsakiris D, Bartsch I, Sandrock K, Schubart C, et al. A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype. Hamostaseologie. 2009;29:161-7 pubmed
    ..The 24 heterozygous carriers did not differ significantly from their 10 wildtype family members regarding bleeding symptoms and laboratory analysis. ..
  20. Has C, Herz C, Zimina E, Qu H, He Y, Zhang Z, et al. Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes. Am J Pathol. 2009;175:1442-52 pubmed publisher
    ..Loss of these kindlin-1 functions forms the biological basis for the epithelial cell fragility and atrophy in the pathology of KS. ..
  21. Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster U, Fuchs S, et al. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat. 2005;26:176-83 pubmed
    ..This article summarizes the current knowledge about SALL4 defects and associated syndromes, and describes the clinical distinctions with similar phenotypes caused by other gene defects. ..
  22. Böttinger L, Gornicka A, Czerwik T, Bragoszewski P, Loniewska Lwowska A, Schulze Specking A, et al. In vivo evidence for cooperation of Mia40 and Erv1 in the oxidation of mitochondrial proteins. Mol Biol Cell. 2012;23:3957-69 pubmed publisher
    ..Thus Mia40 in cooperation with Erv1 promotes the formation of two disulfide bonds in the substrate protein, ensuring the efficiency of oxidative folding in the intermembrane space of mitochondria. ..
  23. Meinicke H, Bremser A, Brack M, Akeus P, Pearson C, Bullers S, et al. Tumour-associated changes in intestinal epithelial cells cause local accumulation of KLRG1+ GATA3+ regulatory T cells in mice. Immunology. 2017;152:74-88 pubmed publisher
    ..Our data identify a novel axis through which epithelial cells control local Treg cell subsets, which may be activated during intestinal tumorigenesis. ..
  24. Habjan M, Pichlmair A, Elliott R, Overby A, Glatter T, Gstaiger M, et al. NSs protein of rift valley fever virus induces the specific degradation of the double-stranded RNA-dependent protein kinase. J Virol. 2009;83:4365-75 pubmed publisher
    ..Our data suggest that RVFV NSs has gained an additional anti-IFN function that may explain the extraordinary pathogenicity of this virus. ..
  25. Boedeker C. [Paragangliomas and paraganglioma syndromes]. Laryngorhinootologie. 2011;90 Suppl 1:S56-82 pubmed publisher
    ..We recommend screening for mutations of the genes SDHB, SDHC and SDHD in all patients with HNPs. Certain clinical parameters can help to set up the order in which the 3 genes should be tested...
  26. Ohsugi M, Larue L, Schwarz H, Kemler R. Cell-junctional and cytoskeletal organization in mouse blastocysts lacking E-cadherin. Dev Biol. 1997;185:261-71 pubmed
  27. Fuchshuber A, Mucha B, Baumgartner E, Vollmer M, Hildebrandt F. mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. Hum Mutat. 2000;16:179 pubmed
    ..The position in relation to different functional domains in MCM allow for an interpretation of the identified mutations. Hum Mutat 16:179, 2000. ..
  28. Plaster N, Sonntag C, Busse C, Hammerschmidt M. p53 deficiency rescues apoptosis and differentiation of multiple cell types in zebrafish flathead mutants deficient for zygotic DNA polymerase delta1. Cell Death Differ. 2006;13:223-35 pubmed
    ..This indicates that under replication-compromised conditions, the p53 branch of the S-phase checkpoint is responsible for eliminating stalled cells that, given more time, would have otherwise finished their normal developmental program. ..
  29. Alder A, Jamil M, Marzorati M, Bruno M, Vermathen M, Bigler P, et al. The path from ?-carotene to carlactone, a strigolactone-like plant hormone. Science. 2012;335:1348-51 pubmed publisher
    ..Knowledge of the structure of carlactone will be crucial for understanding the biology of strigolactones and may have applications in combating parasitic weeds...
  30. Boschert U, Ramos R, Tix S, Technau G, Fischbach K. Genetic and developmental analysis of irreC, a genetic function required for optic chiasm formation in Drosophila. J Neurogenet. 1990;6:153-71 pubmed
  31. Rakhmanov M, Keller B, Gutenberger S, Foerster C, Hoenig M, Driessen G, et al. Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells. Proc Natl Acad Sci U S A. 2009;106:13451-6 pubmed publisher
    ..Therefore, as a result of the close resemblance to the gene expression profile, phenotype, function and preferential tissue homing of murine B1 B cells, we suggest that CD21(low) B cells represent a human innate-like B cell population. ..
  32. Venhoff N, Emmerich F, Neagu M, Salzer U, Koehn C, Driever S, et al. The role of HLA DQ2 and DQ8 in dissecting celiac-like disease in common variable immunodeficiency. J Clin Immunol. 2013;33:909-16 pubmed publisher
    ..We aimed to determine the frequency of these haplotypes in CVID patients with suspected CD. Furthermore, we report on autoimmune manifestations and the lymphocyte phenotype in these patients...
  33. Huemer M, Mulder Bleile R, Burda P, Froese D, Suormala T, Zeev B, et al. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab Dis. 2016;39:115-24 pubmed publisher
    ..Age at presentation and clinical pattern are correlated with residual enzyme activity. Treatment alleviates biochemical abnormalities and clinical symptoms partially. ..
  34. Hainmann I, Oldenburg J, Pavlova A, Superti Furga A, Zieger B. Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency. Hamostaseologie. 2009;29:184-6 pubmed
    ..856G>A, Val286Met) in exon 7 of the F10 gene leading to a compound heterozygous state and causing severe factor X deficiency. Therapeutic options for patients with symptomatic factor X deficiency are demonstrated. ..
  35. Martin A, Lang D, Hanke S, Mueller S, Sarnighausen E, Vervliet Scheebaum M, et al. Targeted gene knockouts reveal overlapping functions of the five Physcomitrella patens FtsZ isoforms in chloroplast division, chloroplast shaping, cell patterning, plant development, and gravity sensing. Mol Plant. 2009;2:1359-72 pubmed publisher
    ..These results support the concept of a plastoskeleton and its functional integration into the cytoskeleton, at least in the moss P. patens. ..
  36. Heinzel K, Bleul C. The Foxn1-dependent transcripts PCOLCE2 and mPPP1R16B are not required for normal thymopoiesis. Eur J Immunol. 2007;37:2562-71 pubmed
    ..While there is no evidence for a functional role of PCOLCE2 and mPPP1R16B in thymus development, our results suggest that the lack of thymopoiesis in Foxn1-deficient mice is caused by multiple functional defects. ..
  37. Kütscher C, Lampert F, Kunze M, Markfeld Erol F, Stark G, Finkenzeller G. Overexpression of hypoxia-inducible factor-1 alpha improves vasculogenesis-related functions of endothelial progenitor cells. Microvasc Res. 2016;105:85-92 pubmed publisher
    ..Therefore, Hif-1α overexpression may represent a therapeutic option to improve cellular functions of adult as well as postnatal EPCs. ..
  38. Kutejova E, Engist B, Mallo M, Kanzler B, Bobola N. Hoxa2 downregulates Six2 in the neural crest-derived mesenchyme. Development. 2005;132:469-78 pubmed
    ..Furthermore, we demonstrate that Hoxa2 regulation of Six2 is confined to a 0.9 kb fragment of the Six2 promoter and that Hoxa2 binds to this promoter region. These results strongly suggest that Six2 is a direct target of Hoxa2. ..
  39. Schwemmers S, Will B, Waller C, Abdulkarim K, Johansson P, Andréasson B, et al. JAK2V617F-negative ET patients do not display constitutively active JAK/STAT signaling. Exp Hematol. 2007;35:1695-703 pubmed
    ..Elucidation of novel ET-inducing changes will facilitate both a molecular classification of ET and development of rationally designed therapies. ..
  40. Hainmann I, Korinthenberg R, Oldenburg J, Pavlova A, Mader I, Zieger B. Compound heterozygosity of the protein S-gene as a cause of severe cerebral sinovenous thrombosis in a 7-year-old child. Klin Padiatr. 2010;222:194-5 pubmed publisher
    ..In case of thrombosis analysis of protein S is recommended. Low levels of protein S should be further investigated by molecular diagnostics. ..
  41. Bert B, Chmielewska J, Bergmann S, Busch M, Driever W, Finger Baier K, et al. Considerations for a European animal welfare standard to evaluate adverse phenotypes in teleost fish. EMBO J. 2016;35:1151-4 pubmed publisher
  42. Ohnemus S, Kanzler B, Jerome Majewska L, Papaioannou V, Boehm T, Mallo M. Aortic arch and pharyngeal phenotype in the absence of BMP-dependent neural crest in the mouse. Mech Dev. 2002;119:127-35 pubmed
  43. Schermer B, Ghenoiu C, Bartram M, Muller R, Kotsis F, Höhne M, et al. The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth. J Cell Biol. 2006;175:547-54 pubmed
    ..Furthermore, pVHL interacts with the Par3-Par6-atypical PKC complex, suggesting a mechanism for linking polarity pathways to microtubule capture and ciliogenesis. ..
  44. Finkenzeller G, Graner S, Kirkpatrick C, Fuchs S, Stark G. Impaired in vivo vasculogenic potential of endothelial progenitor cells in comparison to human umbilical vein endothelial cells in a spheroid-based implantation model. Cell Prolif. 2009;42:498-505 pubmed publisher
    ..Our results indicate that vascular-derived endothelial cells, such as HUVECs are superior to EPCs in terms of promoting in vivo vascularization of engineered tissues. ..
  45. Sharaf A, Bock H, Spittau B, Bouché E, Krieglstein K. ApoER2 and VLDLr are required for mediating reelin signalling pathway for normal migration and positioning of mesencephalic dopaminergic neurons. PLoS ONE. 2013;8:e71091 pubmed publisher
    ..Taken together, our results demonstrate that the Reelin receptors ApoER2 and VLDLr play essential roles in Reelin-mediated migration and positioning of mDA neurons. ..
  46. Imai K, Nass S, Olowson M, Balling R. The genetic map around the tail kinks (tk) locus on mouse chromosome 9. Mamm Genome. 1993;4:560-4 pubmed
    ..We show that one of the microsatellite markers mapped, D9Mit9, does not recombine at all with tk in our backcross. This indicates that the D9Mit9 locus will serve as a good starting point for a chromosomal walk to the tk gene. ..
  47. Hermanns P, Unger S, Rossi A, Perez Aytes A, Cortina H, Bonafe L, et al. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet. 2008;82:1368-74 pubmed publisher
    ..These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum...
  48. Quack I, Vonderstrass B, Stock M, Aylsworth A, Becker A, Brueton L, et al. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet. 1999;65:1268-78 pubmed
  49. Bobola N, Engist B. IGFBP5 is a potential regulator of craniofacial skeletogenesis. Genesis. 2008;46:52-9 pubmed publisher
  50. Fatouros C, Pir G, Biernat J, Koushika S, Mandelkow E, Mandelkow E, et al. Inhibition of tau aggregation in a novel Caenorhabditis elegans model of tauopathy mitigates proteotoxicity. Hum Mol Genet. 2012;21:3587-603 pubmed publisher
    ..Our study establishes a new C. elegans model of Tau aggregation-mediated toxicity and supports the emerging notion that inhibiting the nucleation of Tau aggregation can be neuroprotective. ..
  51. Würschum T, Gross Hardt R, Laux T. APETALA2 regulates the stem cell niche in the Arabidopsis shoot meristem. Plant Cell. 2006;18:295-307 pubmed
    ..Genetic analysis shows that termination of the primary shoot meristem in l28 mutants requires an active CLV signaling pathway, indicating that AP2 functions in stem cell maintenance by modifying the WUS-CLV3 feedback loop. ..
  52. Auw Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet D, et al. A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype. Ophthalmology. 2009;116:46-51 pubmed publisher
    ..The authors have no proprietary or commercial interest in any materials discussed in this article. ..
  53. Kiritsi D, Kern J, Schumann H, Kohlhase J, Has C, Bruckner Tuderman L. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet. 2011;48:450-7 pubmed publisher
    ..The data have significant implications for design of molecular therapies for JEB, since they suggest that already a low extent of collagen XVII restoration will improve skin stability and alleviate symptoms. ..
  54. Miot C, Imai K, Imai C, Mancini A, Kucuk Z, Kawai T, et al. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Blood. 2017;130:1456-1467 pubmed publisher
    ..Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations. ..
  55. Moriggl R, Gouilleux Gruart V, Jähne R, Berchtold S, Gartmann C, Liu X, et al. Deletion of the carboxyl-terminal transactivation domain of MGF-Stat5 results in sustained DNA binding and a dominant negative phenotype. Mol Cell Biol. 1996;16:5691-700 pubmed
    ..We propose that Stat5a delta 750 and Stat5b delta 754 are lacking functional transactivation domains and exert their dominant negative effects by blocking the DNA-binding site in Stat5-responsive gene promoters. ..
  56. Kruse S, Mao X, Heinzmann A, Blattmann S, Roberts M, Braun S, et al. The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma. Am J Hum Genet. 2000;66:1522-30 pubmed
    ..At the same time, they are associated with an increased risk to develop asthma and atopy. Thus, two PAFAH variants seem to play a key role in atopic and asthmatic processes in Caucasian populations. ..
  57. Omran H, Haffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, et al. Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. J Am Soc Nephrol. 2001;12:107-13 pubmed
  58. Lele Z, Bakkers J, Hammerschmidt M. Morpholino phenocopies of the swirl, snailhouse, somitabun, minifin, silberblick, and pipetail mutations. Genesis. 2001;30:190-4 pubmed
  59. Sweere U, Eichenberg K, Lohrmann J, Mira Rodado V, Bäurle I, Kudla J, et al. Interaction of the response regulator ARR4 with phytochrome B in modulating red light signaling. Science. 2001;294:1108-11 pubmed
    ..We propose that the response regulator 4 acts as an output element of a two-component system that modulates red light signaling on the level of the phytochrome B photoreceptor. ..
  60. Kemler R, Hierholzer A, Kanzler B, Kuppig S, Hansen K, Taketo M, et al. Stabilization of beta-catenin in the mouse zygote leads to premature epithelial-mesenchymal transition in the epiblast. Development. 2004;131:5817-24 pubmed
    ..As a consequence, cells of the embryonic ectoderm change their fate, resulting in a premature epithelial-mesenchymal transition. ..
  61. Beetz N, Harrison M, Brede M, Zong X, Urbanski M, Sietmann A, et al. Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice. J Clin Invest. 2009;119:3597-3612 pubmed publisher
    ..These findings demonstrate that PDC is an important modulator of sympathetic activity and blood pressure and may thus represent a promising target for treatment of stress-dependent hypertension. ..
  62. Poloschek C, Bach M, Lagrèze W, Glaus E, Lemke J, Berger W, et al. ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Invest Ophthalmol Vis Sci. 2010;51:4253-65 pubmed publisher
  63. Stemmler M, Bedzhov I. A Cdh1HA knock-in allele rescues the Cdh1-/- phenotype but shows essential Cdh1 function during placentation. Dev Dyn. 2010;239:2330-44 pubmed publisher
    ..Placentas without Cdh1 expression are impaired and incapable of establishing a proper connection between the embryonic and the maternal blood vessels for efficient nutrient and oxygen transport. ..
  64. Helmstädter M, Lüthy K, Gödel M, Simons M, Ashish -, Nihalani D, et al. Functional study of mammalian Neph proteins in Drosophila melanogaster. PLoS ONE. 2012;7:e40300 pubmed publisher
    ..Hereby, we establish D. melanogaster as a genetic system to specifically model molecular Neph1 functions in vivo and identify a conserved amino acid motif linking Neph1 to Drosophila Kirre function. ..
  65. Schumann H, Kiritsi D, Pigors M, Hausser I, Kohlhase J, Peters J, et al. Phenotypic spectrum of epidermolysis bullosa associated with ?6?4 integrin mutations. Br J Dermatol. 2013;169:115-24 pubmed publisher
    ..A high frequency of urinary tract involvement was found in this study, and represented the main cause of morbidity. Low levels of ?4 integrin expression were compatible with hemidesmosomal integrity and a mild skin phenotype. ..
  66. Dick A, Meier A, Hammerschmidt M. Smad1 and Smad5 have distinct roles during dorsoventral patterning of the zebrafish embryo. Dev Dyn. 1999;216:285-98 pubmed
  67. Botzenhart E, Green A, Ilyina H, König R, Lowry R, Lo I, et al. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat. 2005;26:282 pubmed
  68. Borozdin W, Bravo Ferrer Acosta A, Seemanova E, Leipoldt M, Bamshad M, Unger S, et al. Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. Am J Med Genet A. 2006;140A:1880-6 pubmed
  69. Brunner M, Peng X, Liu G, Ren X, Ziv O, Choi B, et al. Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome. J Clin Invest. 2008;118:2246-59 pubmed publisher
    ..These results have implications for understanding the nature and heterogeneity of cardiac arrhythmias and sudden cardiac death...
  70. Poloschek C, Kloeckener Gruissem B, Hansen L, Bach M, Berger W. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Invest Ophthalmol Vis Sci. 2008;49:4096-104 pubmed publisher
    ..To identify the mutation leading to syndromic choroideremia (CHM) in two families and to define fundus autofluorescence (FAF) in CHM carriers...
  71. Grochowy G, Hermiston M, Kuhny M, Weiss A, Huber M. Requirement for CD45 in fine-tuning mast cell responses mediated by different ligand-receptor systems. Cell Signal. 2009;21:1277-86 pubmed publisher
    ..Together, the data indicate that CD45 plays a complex and essential role in fine-tuning mast cell responses mediated by different ligand-receptor systems. ..
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    ..In contrast, the mutation stabilizes nuclear speckles (NUS) that appear late under continuous far-red light, whereas the formation of early, transiently appearing NUS remained more or less unaltered. ..
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    ..DNAH5 is frequently mutated in patients with PCD exhibiting outer dynein arm defects and mutations cluster in five exons. ..
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    ..In addition, we also present eight novel TBX5 mutations (three nonsense, one splice mutation, four short deletions) as detected by direct sequencing in 21 families not previously analyzed for mutations...
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    ..We propose that Six2 acts to mediate Hoxa2 control over the insulin-like growth factor pathway during branchial arch development...
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    ..These data demonstrate that fibroblast-based treatment can be used to treat DEB in a mouse model and suggest that this approach may be effective in the development of clinical therapeutic regimens for patients with DEB. ..
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    ..Since the N- and C-terminal fragments of nephrocystin-6 engage in the formation of homo- and heteromeric protein complexes, conformational changes seem to regulate the interaction of nephrocystin-6 with its binding partners. ..
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    ..The family presented here suggests that a yet-unknown genetic defect can give rise to an autosomal dominant myopathy with Paget's disease but without dementia...
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    ..Environmental factors and yet unidentified modifiers may play a role. Better understanding of the molecular pathogenesis of KS should enable the development of prevention strategies for disease complications. ..
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    ..Based on these findings, we considered DNAL1 a candidate for PCD and sequenced all exons of DNAL1 in 86 patients. Mutational analysis was negative, excluding a major role of DNAL1 in the pathogenesis of PCD. ..
  89. Kern J, Kohlhase J, Bruckner Tuderman L, Has C. Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol. 2006;126:1006-12 pubmed
    ..In addition, the studies disclosed a de novo mutation in recessive DEB and two new polymorphisms in the COL7A1 gene. ..
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    ..We propose that the physiological medullary architecture ensures negative-selection by supporting lympho-epithelial interaction through a large epithelial cell surface distributed evenly across the medulla. ..
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    ..We discuss the pathophysiological aspects in these patients that deserve consideration before any general anaesthesia is administered. ..
  92. Dorn A, Zoellner A, Follo M, Martin S, Weber F, Marks R, et al. Rap1a deficiency modifies cytokine responses and MAPK-signaling in vitro and impairs the in vivo inflammatory response. Cell Immunol. 2012;276:187-95 pubmed publisher
    ..In addition, in a hypersensitivity model rap1-deficient mice demonstrated reduced contact dermatitis compared to wildtype mice, demonstrating the impact of rap1-deficiency on the inflammatory response in vivo. ..