Výsledky vyhledávání - "Miriam A, Kamps"

A rare missense mutation inGJB3(Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death

Autor: Michel van Geel, Maurice A.M. van Steensel, Jos L. V. Broers, Ahmad Albuloushi, Jennifer A. Easton, Barry J. Coull, Vincent Oji, Gladys H. M. R. Brouns, Miriam A.F. Kamps, Patricia Martin

Publikováno v: Experimental Dermatology, 28(10), 1106-1113. Wiley

Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p.G45E), in two unrelated patients and investigated its cellular cha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02ba67f8cbe5ea84e957d4975e41a391
https://doi.org/10.1111/exd.13542

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Cellular strain avoidance is mediated by a functional actin cap - observations in an Lmna-deficient cell model

Autor: Fpt Frank Baaijens, Jlv Jos Broers, C Chiara Tamiello, Cvc Carlijn Bouten, Miriam A.F. Kamps, Maurice Halder

Publikováno v: Journal of Cell Science, 130(4), 779-790. Company of Biologists Ltd

In adherent cells, the relevance of a physical mechanotransduction pathway provided by the perinuclear actin cap stress fibers has recently emerged. Here, we investigate the impact of a functional actin cap on the cellular adaptive response to topogr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96a6f8fc11dd68bedd986f950c5761f4
https://research.tue.nl/nl/publications/852ae23c-c0e9-48c7-8efa-cd0ed345398c

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The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation

Publikováno v: Journal of Clinical Investigation, 124(6), 2640-2650. American Society for Clinical Investigation

The Warburg effect is a tumorigenic metabolic adaptation process characterized by augmented aerobic glycolysis, which enhances cellular bioenergetics. In normal cells, energy homeostasis is controlled by AMPK; however, its role in cancer is not under

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43f60b0e59cd5a5ce8ac080dda890f72
https://doi.org/10.1172/JCI71749

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Cytoplasmic localization of PML particles in laminopathies

Autor: Frederik Houben, Ingrid P.C. Krapels, M. Coorens, Valerie L. R. M. Verstraeten, Frans C. S. Ramaekers, Carlo Marcelis, G. J. J. Kierkels, W. De Vos, Jos L. V. Broers, Miriam A.F. Kamps, A. van den Wijngaard

Publikováno v: Histochemistry and Cell Biology, 139(1), 119-134. Springer Verlag
Histochemistry and Cell Biology, 139, 119-34
Histochemistry and Cell Biology, 139, 1, pp. 119-34

Item does not contain fulltext There is growing evidence that laminopathies, diseases associated with mutations in the LMNA gene, are caused by a combination of mechanical and gene regulatory distortions. Strikingly, there is a large variability in d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f8b0aa3ad705565fada2c340dcdc985
https://doi.org/10.1007/s00418-012-1005-5

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Soft substrates normalize nuclear morphology and prevent nuclear rupture in fibroblasts from a laminopathy patient with compound heterozygous LMNA mutations

Autor: Frank P. T. Baaijens, Carlijn V. Bouten, C Chiara Tamiello, Arthur van den Wijngaard, Jos L. V. Broers, Miriam A.F. Kamps, Valerie L. R. M. Verstraeten

Publikováno v: Nucleus, 4(1), 61-73. Landes Bioscience
Nucleus

Laminopathies, mainly caused by mutations in the LMNA gene, are a group of inherited diseases with a highly variable penetrance; i.e., the disease spectrum in persons with identical LMNA mutations range from symptom-free conditions to severe cardiomy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::412a14f94cec33feaa05046d7b178db3
https://doi.org/10.4161/nucl.23388

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Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes

Autor: Eugene A. de Zwart-Storm, Rafael Fabiano Machado Rosa, Patricia Martin, Giorgio Adriano Paskulin, Ana E. K. Bau, Carla Graziadio, Maurice A.M. van Steensel, Michel van Geel, Miriam A.F. Kamps, Regina Foelster-Holst, Paulo Ricardo Gazzola Zen, Jorge Frank

Publikováno v: Experimental Dermatology. 20:408-412

Mutations in connexin26, a cutaneous gap junction protein, cause a wide variety of skin disorders including keratitis-ichthyosis-deafness syndrome (KID). We previously delineated a phenotype distinct from KID, hypotrichosis-deafness syndrome, caused

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88671f60b89b9fbb8eac340286d5f8ad
https://doi.org/10.1111/j.1600-0625.2010.01222.x

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Reorganization of the nuclear lamina and cytoskeleton in adipogenesis

Autor: Maurice A.M. van Steensel, Jos L. V. Broers, Miriam A.F. Kamps, Valerie L. R. M. Verstraeten, Johan Renes, P.M. Steijlen, Fons Verheyen, Frans C. S. Ramaekers, Martin Wabitsch, Helma J.H. Kuijpers

Publikováno v: Histochemistry and Cell Biology
Histochemistry and Cell Biology, 135(3), 251-61. Springer Verlag

A thorough understanding of fat cell biology is necessary to counter the epidemic of obesity. Although molecular pathways governing adipogenesis are well delineated, the structure of the nuclear lamina and nuclear-cytoskeleton junction in this proces

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7352378bbd95cbd1a0af9a73400fc042
https://doi.org/10.1007/s00418-011-0792-4

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Genomic integration of oncogenic HPV and gain of the human telomerase geneTERC at 3q26 are strongly associated events in the progression of uterine cervical dysplasia to invasive cancer

Autor: Frans C. S. Ramaekers, L E Morrison, Frank Smedts, Miriam A.F. Kamps, Wendy Theelen, Pascal P. H. Hommelberg, E.J.M. Speel, CS Herrington, Anton H. N. Hopman

Publikováno v: The Journal of Pathology. 210:412-419

Recently proposed events associated with the progression of cervical intraepithelial neoplasia (CIN) 2/3 to cervical carcinoma include integration of human papillomavirus (HPV) into the host genome, genomic instability, and an increase in chromosome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::404bd25acdb32c3a8dac49c8a8ec1d49
https://doi.org/10.1002/path.2070

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HPV in situ hybridization: Impact of different protocols on the detection of integrated HPV

Autor: Ernst-Jan M. Speel, Anton H. N. Hopman, C. Simon Herrington, Frank Smedts, Miriam A.F. Kamps, Frans C. S. Ramaekers

Publikováno v: International Journal of Cancer, 115, 419-428. Wiley

Although there is consensus that HPV integration is common in invasive cervical carcinomas and uncommon or absent in lowgrade uterine cervical intraepithelial neoplasia (CIN 1), estimates for HPV integration in CIN II/III range from 5 to 100% using d

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https://doi.org/10.1002/ijc.20862

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Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations

Autor: Miriam A.F. Kamps, Rene Janssens, P.M. Steijlen, Michel van Geel, Maurice A.M. van Steensel, Rudolf Happle, Gianluca Tadini, Jennifer A. Easton, Patricia Martin, Steven Donnelly

Publikováno v: The Journal of Investigative Dermatology
Journal of Investigative Dermatology, 132(9), 2184-2191. Elsevier Science

Porokeratotic eccrine ostial and dermal duct nevus, or porokeratotic eccrine nevus (PEN), is a hyperkeratotic epidermal nevus. Several cases of widespread involvement have been reported, including one in association with the keratitis-ichthyosis-deaf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff6f4743fbadd06d329927106be642bb
https://pubmed.ncbi.nlm.nih.gov/22592158

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