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  1. Article ; Online: Moebius syndrome and gastroschisis-The second case of a rare association.

    Brockmann, Knut / Kaulfuß, Silke

    American journal of medical genetics. Part A

    2023  Volume 194, Issue 1, Page(s) 111–114

    MeSH term(s) Humans ; Gastroschisis/complications ; Gastroschisis/diagnosis ; Gastroschisis/genetics ; Mobius Syndrome/complications
    Language English
    Publishing date 2023-09-25
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63411
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  2. Article ; Online: Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.

    Schmidt, Julia / Bremmer, Felix / Brockmann, Knut / Kaulfuß, Silke / Wollnik, Bernd

    Clinical genetics

    2022  Volume 102, Issue 3, Page(s) 239–241

    Abstract: Proteus syndrome is a very rare disorder with progressive, asymmetrical, and disproportionate overgrowth of body parts with a highly variable phenotype. It is associated with mosaicism for the recurrent heterozygous somatic gain-of-function variant c.49G> ...

    Abstract Proteus syndrome is a very rare disorder with progressive, asymmetrical, and disproportionate overgrowth of body parts with a highly variable phenotype. It is associated with mosaicism for the recurrent heterozygous somatic gain-of-function variant c.49G>A (p.Glu17Lys) in the protein kinase AKT1. We report on a girl with a progressive intraosseous lipoma of the frontal bone and additional, nonspecific features including mild developmental delay, strabism, and a limbal dermoid of the left eye. She did not fulfill the criteria for a clinical diagnosis of Proteus syndrome. However, mutation analysis of AKT1 in a lipoma biopsy revealed this specific activating variant. Several cases of progressive intraosseous lipoma of the frontal bone have been reported in the literature. Only in two of these observations, a tentative diagnosis of Proteus syndrome was made, based on additional clinical features, although without molecular-genetic verification. We conclude that oligosymptomatic Proteus syndrome should be considered in progressive intraosseous lipoma, as recognition of this diagnosis has relevant implications for genetic counseling and opens novel treatment options with AKT1 inhibitors rather than surgical procedures.
    MeSH term(s) Female ; Humans ; Lipoma/diagnosis ; Lipoma/genetics ; Mosaicism ; Proteus Syndrome/diagnosis ; Proteus Syndrome/genetics ; Proteus Syndrome/pathology ; Proto-Oncogene Proteins c-akt/genetics
    Chemical Substances AKT1 protein, human (EC 2.7.11.1) ; Proto-Oncogene Proteins c-akt (EC 2.7.11.1)
    Language English
    Publishing date 2022-06-17
    Publishing country Denmark
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14174
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    Zs.A 413: Show issues Location:
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  3. Article ; Online: Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.

    Schmidt, Julia / Kaulfuß, Silke / Ott, Hagen / Gaubert, Marianne / Reintjes, Nadine / Bremmer, Felix / Dreha-Kulaczewski, Steffi / Stroebel, Philipp / Yigit, Gökhan / Wollnik, Bernd

    Human genetics

    2024  Volume 143, Issue 2, Page(s) 159–168

    Abstract: The fibroblast growth factor receptors comprise a family of related but individually distinct tyrosine kinase receptors. Within this family, FGFR2 is a key regulator in many biological processes, e.g., cell proliferation, tumorigenesis, metastasis, and ... ...

    Abstract The fibroblast growth factor receptors comprise a family of related but individually distinct tyrosine kinase receptors. Within this family, FGFR2 is a key regulator in many biological processes, e.g., cell proliferation, tumorigenesis, metastasis, and angiogenesis. Heterozygous activating non-mosaic germline variants in FGFR2 have been linked to numerous autosomal dominantly inherited disorders including several craniosynostoses and skeletal dysplasia syndromes. We report on a girl with cutaneous nevi, ocular malformations, macrocephaly, mild developmental delay, and the initial clinical diagnosis of Schimmelpenning-Feuerstein-Mims syndrome, a very rare mosaic neurocutaneous disorder caused by postzygotic missense variants in HRAS, KRAS, and NRAS. Exome sequencing of blood and affected skin tissue identified the mosaic variant c.1647=/T > G p.(Asn549=/Lys) in FGFR2, upstream of the RAS signaling pathway. The variant is located in the tyrosine kinase domain of FGFR2 in a region that regulates the activity of the receptor and structural mapping and functional characterization revealed that it results in constitutive receptor activation. Overall, our findings indicate FGFR2-associated neurocutaneous syndrome as the accurate clinical-molecular diagnosis for the reported individual, and thereby expand the complex genotypic and phenotypic spectrum of FGFR-associated disorders. We conclude that molecular analysis of FGFR2 should be considered in the genetic workup of individuals with the clinical suspicion of a mosaic neurocutaneous condition, as the knowledge of the molecular cause might have relevant implications for genetic counseling, prognosis, tumor surveillance and potential treatment options.
    MeSH term(s) Female ; Humans ; Neurocutaneous Syndromes/diagnosis ; Neurocutaneous Syndromes/genetics ; Genotype ; Mutation, Missense ; Nevus, Sebaceous of Jadassohn/genetics ; Nevus, Sebaceous of Jadassohn/pathology ; Craniosynostoses/genetics ; Receptor, Fibroblast Growth Factor, Type 2/genetics
    Chemical Substances FGFR2 protein, human (EC 2.7.10.1) ; Receptor, Fibroblast Growth Factor, Type 2 (EC 2.7.10.1)
    Language English
    Publishing date 2024-01-24
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-023-02634-1
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    Zs.A 256: Show issues Location:
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  4. Book ; Online ; Thesis: Beeinflusst der knockdown des membranständigen Östrogenrezeptors GPER (GPR30) die anti-invasive Wirksamkeit selektiver Östrogenrezeptor beta (ERb)-Agonisten?

    Schmitz, Vivien [Verfasser] / Gründker, Carsten [Akademischer Betreuer] / Gründker, Carsten [Gutachter] / Kaulfuß, Silke [Gutachter]

    2023  

    Author's details Vivien Schmitz ; Gutachter: Carsten Gründker, Silke Kaulfuß ; Betreuer: Carsten Gründker
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language German
    Publisher Niedersächsische Staats- und Universitätsbibliothek Göttingen
    Publishing place Göttingen
    Document type Book ; Online ; Thesis
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  5. Book ; Online ; Thesis: CYR61 und S100A4 als Targets für die Therapie des triple-negativen Mammakarzinoms sowie des Tamoxifen-resistenten Mammakarzinoms

    Hüchel, Silke [Verfasser] / Gründker, Carsten [Akademischer Betreuer] / Kaulfuß, Silke [Gutachter] / Dressel, Ralf [Gutachter]

    2022  

    Author's details Silke Hüchel ; Gutachter: Silke Kaulfuß, Ralf Dressel ; Betreuer: Carsten Gründker
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language German
    Publisher Niedersächsische Staats- und Universitätsbibliothek Göttingen
    Publishing place Göttingen
    Document type Book ; Online ; Thesis
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  6. Article: Evidence of Two Novel

    Meyer, Stefanie / Kaulfuß, Silke / Zechel, Sabrina / Kummer, Karsten / Seif Amir Hosseini, Ali / Ernst, Marielle Sophie / Schmidt, Jens / Pauli, Silke / Zschüntzsch, Jana

    Frontiers in neurology

    2022  Volume 13, Page(s) 893605

    Abstract: Background: Benefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance (VUS). ... ...

    Abstract Background: Benefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance (VUS). Focusing on an individual VUS-re-classification pipeline, this study offers a diagnostic approach for clinically suspected hereditary muscular dystrophy by combining the expertise of an interdisciplinary team.
    Methods: In a multi-step approach, a thorough phenotype assessment including clinical examination, laboratory work, muscle MRI and histopathological evaluation of muscle was performed in combination with advanced Next Generation Sequencing (NGS). Different in-silico tools and prediction programs like Alamut, SIFT, Polyphen, MutationTaster and M-Cap as well as 3D- modeling of protein structure and RNA-sequencing were employed to determine clinical significance of the
    Results: Two previously unknown sequence alterations in
    Discussion: Two novel variants in
    Language English
    Publishing date 2022-07-19
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2022.893605
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  7. Book ; Online: Genetische Suszeptibiliätstestung für sporadische Alzheimer-Demenz: Analyse medizinethischer Probleme im Spannungsfeld von Autonomie und Verantwortung

    Kogel, Friederike / Kaulfuß, Silke / Schicktanz, Silke / Schön, Margarete

    2018  

    Abstract: Alzheimer’s disease (AD) is the most common cause of dementia and a major public health concern. Currently, neither prevention nor treatment exists to cure or stop the fatal disease. Findings suggest that neurodegeneration begins decades before the first ...

    Title variant Analysis of biotehical issues
    Author's details vorgelegt von Friederike Kogel
    Abstract Alzheimer’s disease (AD) is the most common cause of dementia and a major public health concern. Currently, neither prevention nor treatment exists to cure or stop the fatal disease. Findings suggest that neurodegeneration begins decades before the first symptoms occur. A focus of AD research involves identifying asymptomatic adults at increased risk with the purpose of initiating treatment before the onset of irreversible neurological disease. According to the current state of knowledge AD is a complex disease due to the interaction of genetic and environmental factors. Sporadic late-onset...
    Language German
    Size 1 Online-Ressource, Illustrationen, Diagramme
    Document type Book ; Online
    Database Special collection on veterinary medicine and general parasitology

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  8. Article ; Online: Aplasia cutis congenita in a CDC42-related developmental phenotype.

    Schnabel, Franziska / Kamphausen, Susanne B / Funke, Rudolf / Kaulfuß, Silke / Wollnik, Bernd / Zenker, Martin

    American journal of medical genetics. Part A

    2020  Volume 185, Issue 3, Page(s) 850–855

    Abstract: Cell division cycle 42 (CDC42) is a small Rho GTPase, which serves as a fundamental intracellular signal node regulating actin cytoskeletal dynamics and several other integral cellular processes. CDC42-associated disorders encompass a broad clinical ... ...

    Abstract Cell division cycle 42 (CDC42) is a small Rho GTPase, which serves as a fundamental intracellular signal node regulating actin cytoskeletal dynamics and several other integral cellular processes. CDC42-associated disorders encompass a broad clinical spectrum including Takenouchi-Kosaki syndrome, autoinflammatory syndromes and neurodevelopmental phenotypes mimicking RASopathies. Dysregulation of CDC42 signaling by genetic defects in either DOCK6 or ARHGAP31 is also considered to play a role in the pathogenesis of Adams-Oliver syndrome (AOS). Here, we report a mother and her child carrying the previously reported pathogenic CDC42 variant c.511G>A (p.Glu171Lys). Both affected individuals presented with short stature, distinctive craniofacial features, pectus deformity as well as heart and eye anomalies, similar to the recently described Noonan syndrome-like phenotype associated with this variant. Remarkably, one of the patients additionally exhibited aplasia cutis congenita of the scalp. Multi-gene panel sequencing of the known AOS-causative genes and whole exome sequencing revealed no second pathogenic variant in any disease-associated gene explaining the aplasia cutis phenotype in our patient. This observation further expands the phenotypic spectrum of CDC42-associated disorders and underscores the role of CDC42 dysregulation in the pathogenesis of aplasia cutis congenita.
    MeSH term(s) Abnormalities, Multiple/genetics ; Adult ; Amino Acid Substitution ; Craniofacial Abnormalities/genetics ; Dwarfism/genetics ; Ectodermal Dysplasia/genetics ; Eye Abnormalities/genetics ; Female ; Genetic Association Studies ; Heart Defects, Congenital/genetics ; Humans ; Infant, Newborn ; Mutation, Missense ; Pedigree ; Phenotype ; Point Mutation ; Scalp/pathology ; Skin Diseases, Vascular/genetics ; Telangiectasis/congenital ; Telangiectasis/genetics ; cdc42 GTP-Binding Protein/deficiency ; cdc42 GTP-Binding Protein/genetics
    Chemical Substances CDC42 protein, human (EC 3.6.5.2) ; cdc42 GTP-Binding Protein (EC 3.6.5.2)
    Language English
    Publishing date 2020-12-07
    Publishing country United States
    Document type Case Reports ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62009
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  9. Article ; Conference proceedings: Systematische Multigen-Panel-Untersuchungen bei erblicher Schwerhörigkeit diagnostizieren komplexe Vererbungsmuster mit Beteiligung mehrerer Gene

    Dyett, Virginia / Braunwarth, Christoph / Rosewich, Hendrik / Kuranov, Alexandr / Kaulfuß, Silke / Argyriou, Loukas / Wollnik, Bernd / Strenzke, Nicola

    Laryngo-Rhino-Otologie

    (Abstract- und Posterband)

    2022  Volume 101, Issue S 02

    Event/congress Abstract- und Posterband - 93. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn Interface - Fokus Mensch im Zeitalter der technisierten Medizin, Deutsche Messe Hannover, 2022-05-25
    Series title Abstract- und Posterband
    Language German
    Publishing date 2022-05-01
    Publisher Georg Thieme Verlag
    Publishing place Stuttgart ; New York
    Document type Article ; Conference proceedings
    ZDB-ID 96005-6
    ISSN 1438-8685 ; 0935-8943 ; 0340-1588
    ISSN (online) 1438-8685
    ISSN 0935-8943 ; 0340-1588
    DOI 10.1055/s-0042-1747504
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  10. Article ; Conference proceedings: Systematic multigene panel studies in hereditary hearing loss diagnose complex inheritance patterns involving multiple genes

    Dyett, Virginia / Braunwarth, Christoph / Rosewich, Hendrik / Kuranov, Alexandr / Kaulfuß, Silke / Argyriou, Loukas / Wollnik, Bernd / Strenzke, Nicola

    Laryngo-Rhino-Otologie

    (Abstract- und Posterband)

    2022  Volume 101, Issue S 02

    Event/congress Abstract- und Posterband - 93. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn Interface - Fokus Mensch im Zeitalter der technisierten Medizin, Deutsche Messe Hannover, 2022-05-25
    Series title Abstract- und Posterband
    Language English
    Publishing date 2022-05-01
    Publisher Georg Thieme Verlag
    Publishing place Stuttgart ; New York
    Document type Article ; Conference proceedings
    ZDB-ID 96005-6
    ISSN 1438-8685 ; 0935-8943 ; 0340-1588
    ISSN (online) 1438-8685
    ISSN 0935-8943 ; 0340-1588
    DOI 10.1055/s-0042-1746914
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