Results 11 to 20 of about 708 (140)

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

American Journal of Medical Genetics Part A, 2012
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Zampatti, S., Castori, M., Fischer, B., Ferrari, P., Garavelli, L., Dionisi-Vici, C., Agolini, E., Wischmeijer, A., Morava, E., Morava, E., Novelli, G., Haberle, J., Kornak, U., Brancati, F.   +13 more
openaire   +9 more sources

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease [PDF]

, 2010
Screening of blood films for the presence of periodic acid-Schiff (PAS)-positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown.
Marloes L. C. Hagemans, Rolinda L. Stigter, Carine I. van Capelle, Nadine A. M. E. van der Beek, Leon P. F. Winkel, Laura van Vliet, Wim C. J. Hop, Arnold J. J. Reuser, Auke Beishuizen, Ans T. van der Ploeg, G Anderson, JB Bain, T Barsy de, FGJ Hayhoe, K Ikeda, BJ Maron, WJ Mitus, F Muntoni, T Okumiya, V Straub, V Straub, PS Trend, AT Ploeg van der, OP Diggelen van, DB Bassewitz von, B Winchester, LP Winkel, LP Winkel   +27 more
core   +1 more source

ESCMID postgraduate technical workshop on intracellular bacteria: from biology to clinic. [PDF]

, 2014
Infection by intracellular bacteria can lead to several diseases in both veterinary and human medicine. Unfortunately, the biology of these intracellular bacteria is highly complex due to their interactions with their host cells.
Greub, G., Pilloux, L.
core   +2 more sources

Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: a report of two unrelated patients and a literature review

Genetics and Molecular Biology, 2005
Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy.
Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria   +2 more
doaj   +1 more source

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. [PDF]

, 2013
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5.
Bresson, J.L., Callewaert, B., Coucke, P.J., Davis, E.C., De Almeida, S., De Paepe, A., Gaspar, H., Gosendi, M.E., Heimdal, K., Kornak, U., Lee, J.G., Mac Neal, M., Madan-Khetarpal, S., Malfait, F., Mansour, S., Piérard, G.E., Prescott, K., Salhi, A., Schulz, B., Sciurba, F.C., Su, C.T., Symoens, S., Unger, S., Urban, Z., Van Damme, T., Van Maldergem, L., Vanakker, O., Vlummens, P.   +27 more
core   +1 more source

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease [PDF]

, 1998
Glycogen storage disease type II (GSDII; Pompe disease), caused by inherited deficiency of acid alpha-glucosidase, is a lysosomal disorder affecting heart and skeletal muscles.
Bakker, C.E. (Cathy), Bijvoet, A.G.A. (Agnes), Ding, J.-H. (Jia-Huan), Kamp, E.H. van de, Kroos, M.A. (Marian), Oostra, B.A. (Ben), Ploeg, A.T. (Ans) van der, Reuser, A.J.J. (Arnold), Verbeet, M.Ph. (Martin), Visser, P. (Pim), Yang, B.Z. (Bing)   +10 more
core   +1 more source

Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Molecular Genetics &Genomic Medicine, Volume 2, Issue 4, Page 319-325, July 2014., 2014
This report identifies novel compound heterozygous missense mutations in ALDH18A1 in two siblings with ARCL3A. The mutations affect a conserved C‐terminal domain of the encoded protein and reduce protein stability as determined through Western blot analysis of patient fibroblasts.
Mark T. Handley, André Mégarbané, Alison M. Meynert, Stephen Brown, Elisabeth Freyer, Martin S. Taylor, Ian J. Jackson, Irene A. Aligianis   +7 more
wiley   +1 more source

?Double-Trouble? for Respiratory Control in Pompe Disease [PDF]

, 2011
A commentary on ‘Hypoglossal neuropathology and respiratory activity in Pompe mice’, by Lee, K.-Z., Qiu, K., Sandhu, M. S., Elmullah, M. K., Falk, D. J., Lane, M. A., Reier, P. J., Byrne, B. J., and Fuller, D. D. (2011). Front. Physiol. 2:31.
Ken D. O'Halloran
core   +1 more source

Protein-protein interactions: network analysis and applications in drug discovery [PDF]

, 2012
Physical interactions among proteins constitute the backbone of cellular function, making them an attractive source of therapeutic targets. Although the challenges associated with targeting protein-protein interactions (PPIs) -in particular with small ...
Bultinck, Jennyfer, Lievens, Sam, Tavernier, Jan   +2 more
core   +2 more sources

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations [PDF]

, 2021
Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of diseases caused by pathogenic variants in genes encoding different components of the extracellular matrix and characterized by pleiotropic manifestations, mainly ...
Beyens, Aude, Callewaert, Bert, De Feyter, Silke, Gezdirici, Alper, Gulec, Elif, Pottie, Lore, Symoens, Sofie, Tapaneeyaphan, Piyanoot, Vanhooydonck, Michiel, Verlee, Maxim   +9 more
core   +2 more sources