Results 141 to 150 of about 554,004 (364)

Genetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report

Journal of Medical Case Reports
X-linked lymphoproliferative syndrome type 2 is a relatively rare primary immunodeficiency disease caused by mutations in XIAP. X-linked lymphoproliferative syndrome type 2 typically occurs in male individuals, while female individuals are carriers of the pathogenic gene mutations. Furthermore, X-linked lymphoproliferative syndrome type 2 has a complex
Yalin Sun, Shu Teng, Wen Li, Huaping Wang, Zhenghong Qi   +4 more
openaire   +3 more sources

Relevance of Copy Number Variation at Chromosome X in Male Fetuses Inherited from the Mother May Be Ascertained by Including Male Relatives from the Maternal Lineage in Addition to Trio Analyses

, 2020
Chromosome microarray analysis has been used for prenatal detection of copy number variations (CNVs) and genetic counseling of CNVs has been greatly improved after the accumulation of knowledge from postnatal outcomes in terms of the genotype-phenotype ...
Mei-Hui Lee, Wan-Ju Wu, Gwo-Chin Ma, Tien-Hsiung Ku, Ming Chen   +4 more
core   +1 more source

Genetic Determinants of Circulating Sphingolipid Concentrations in European Populations [PDF]

, 2009
Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic consequences.
S. Campbell, Aulchenko, Y.S. (Yurii), Igl, Wilmar,, Zaboli, Ghazal, Polasek, O. (Ozren), A. Wright, J. F. Wilson, Gyllensten, U, Hicks, Andrew A, Schwienbacher, C, Hengstenberg, Christian, I. R. König, Peter Ugocsai, A. Demirkan, C. Pattaro, Wichmann, H.-E., G. Liebisch, Peters, Annette, Kirichenko, Anatoly V, Liebisch, G, Peters, A. (Annette), Witteman, Jacqueline C. M., Wright, Alan, C. Hengstenberg, O. Polasek, König, Inke R, P. Ugocsai, Janssens, A. Cecilej W., Hayward, C., Campbell, Harry, Campbell, H, Pichler, I. (Irene), Pichler, I., Gerhard Liebisch, Demirkan, A., Campbell, S, Biloglav, Z. (Zrinka), P. P. Pramstaller, Kolcic, I, Johansson, Asa, Liebisch, Gerhard, C. M. van, Wichmann, H.E. (Heinz Erich), Janssens, A Cecilej W, Meitinger, T., Wild, SH, Ozren Polasek, Igl, W., Jeanette Erdmann, Schmitz, G, Franklin, CS, S. Schreiber, Jonasson, I, Wichmann, H-Erich, Ugocsai, P, Polsek, Ozren, Wichmann, H.-Erich, Cornelia M van Duijn, Hengstenberg, C, Erdmann, J. (Jeanette), H. Campbell, König, I.R. (Inke), Axenovich,T.I., G. Schmitz, Y. Aulchenko, S. H. Wild, Schreiber, Stefan, Gyllensten, Ulf,, Campbell, Harry; id_orcid, I. Rudan, G. Zaboli, Schreiber, S., Ivana Kolcic, Johansson, A, Wright, A, Franklin, Christopher S, Kolcic, I., Zorkoltseva, I.V. (Irina), Wilson, J.F., Rudan, I. (Igor), Johansson, A. (Åsa), Zorkoltseva, I.V., Schwienbacher, Christine, Duijn, Cornelia, Marroni, Fabio, Witteman, Jacqueline C M, Fabio Marroni, Zaboli, Ghazal,, Jonasson, Inger, Hicks, A.A. (Andrew), Irene Pichler, Gyllensten, U., Campbell, H., Wichmann, HE, A Cecilej W Janssens, Pramstaller, P.P. (Peter Paul), Janssens, A.C., Peters, A., Wild, S.H., Isaacs, A., Pichler, Irene, Vitart, Veronique, N. Hastie, Tatiana I Axenovich, Johansson, Åsa,, I. Kolcic, Ghazal Zaboli, James F Wilson, Kolcic, I. (Ivana), Wilson, James F; id_orcid, Biloglav, Zrinka, Ugocsai, P. (Peter), Gnewuch, C., A. Johansson, Zaboli, G., Marroni, F, Andrew A Hicks, Pattaro, C., Pichler, I, Christian Hengstenberg, Jacqueline C M Witteman, Schunkert, H, Biloglav, Z, Caroline Hayward, Pattaro, Cristian, C. Hayward, Koenig, Inke R., Zrinka Biloglav, Demirkan, A. (Ayşe), Liebisch, G., J. Erdmann, Franklin, C.S. (Christopher), I. V. Zorkoltseva, U. Gyllensten, Alan Wright, Pattaro, C, Franklin, Christopher S., Hengstenberg, C. (Christian), A. V. Kirichenko, Harry Campbell, Schunkert, H., W. Igl, Hastie, N., Ulf Gyllensten, C. Schwienbacher, Kirichenko, AV, Demirkan, Ayse, Janssens, A. CecileJ.W., Schreiber, S, Wild, S.H. (Sarah), Zorkoltseva, IV, Schwienbacher, C. (Christine), Erdmann, Jeanette, Yurii Aulchenko, Asa Johansson, Ben A Oostra, Aulchenko, Y., Veronique Vitart, Liebisch, G. (Gerhard), B. A. Oostra, Janssens, Cecile, Christine Schwienbacher, Hastie, N, A. C. W, Rudan, Igor, Igl, W. (Wilmar), I. Pichler, Erdmann, J., C. Gnewuch, Konig, IR, Anatoly V Kirichenko, Schwienbacher, C., van Duijn, C.M., Jonasson, I., Kirichenko, A.V. (Anatoly), Schmitz, G., Hicks, Andrew A., A. A. Hicks, Susan Campbell, Annette Peters, Gerd Schmitz, Hayward, Caroline, Zorkoltseva, Irina V, Witteman, JCM, T. I. Axenovich, Gnewuch, C, König, I.R., Carsten Gnewuch, H. Wichmann, Gyllensten, Ulf, Igl, Wilmar, Meitinger, T, Kirichenko, Anatoly V., H-Erich Wichmann, Cristian Pattaro, C. S. Franklin, Gnewuch, Carsten, König, Inke R., Isaacs, A.J. (Aaron), Erdmann, J, Zaboli, G. (Ghazal), Christopher S Franklin, Campbell, S., Irina V Zorkoltseva, Zorkoltseva, Irina V., Hengstenberg, C., Zaboli, G, Hicks, A.A., Peter P Pramstaller, Marroni, F. (Fabio), Sarah H Wild, Ayse Demirkan, Johansson, A., Wright, A., Hicks, AA, Wichmann, Heinz-Erich, Nick Hastie, Hastie, Nick, H. Schunkert, Polasek, Ozren, Janssens, A. Cecile J. W., Inger Jonasson, Axenovich, TI, Polasek, O., Peters, A, Oostra, Ben A., Oostra, B.A., Wright, A.F. (Alan), Axenovich, T.I. (Tatiana), van Duijn, Cornelia M., Heribert Schunkert, Vitart, V. (Veronique), Hastie, N. (Nick), Wild, Sarah H; id_orcid, Schmitz, Gerd, Hayward, C. (Caroline), Biloglav, Z., Schunkert, H. (Heribert), Campbell, S. (Susan), A. Peters, Ugocsai, Peter, T. Meitinger, Oostra, Ben, Inke R König, Kolcic, Ivana, Stefan Schreiber, Gibson, Greg, Schunkert, Heribert, Z. Biloglav, Rudan, I., Isaacs, Aaron, V. Vitart, Tikka-Kleemola, P. (Päivi), Wilson, JF, Oostra, B.A. (Ben), Franklin, C.S., Jonasson, I. (Inger), Wilson, James F., Schreiber, S. (Stefan), Pramstaller, Peter P, Rudan, I, Wild, Sarah H., Schmitz, G. (Gerd), Janssens, A.C.J.W. (Cécile), Oostra, Ben A, Vitart, V, Meitinger, Thomas, Vitart, V., Aulchenko, Yurii, Pramstaller, PP, Gnewuch, C. (Carsten), Marroni, F., Campbell, Susan, Axenovich, Tatiana I., Hayward, C, Witteman, J.C.M. (Jacqueline), J. C. M, Wilmar Igl, Igl, W, Axenovich, Tatiana I, Kirichenko, A.V., Aulchenko, Yuriy, Wilson, J.F. (James), Gyllensten, U. (Ulf), van Duijn, Cornelia M, Meitinger, T. (Thomas), Hayward, Caroline; id_orcid, Thomas Meitinger, Ugocsai, P., Pattaro, C. (Cristian), Polasek, O, I. Jonasson, Pramstaller, Peter P., Aaron Isaacs, Igor Rudan, Witteman, J.C., Jonasson, Inger,, A. Isaacs, Pramstaller, P.P.   +298 more
core   +1 more source

Hijacking emergency granulopoiesis: Neutrophil ontogeny and reprogramming in cancer

Molecular Oncology, EarlyView.
Neutrophils are highly plastic innate immune cells; their functions in cancer extend beyond the tumour microenvironment. This Review summarises current understanding of neutrophil maturation and heterogeneity and highlights tumour‐induced granulopoiesis as a systemic programme that expands immature, immunosuppressive neutrophils via tumour‐derived ...
Gabriela Marinescu, Yi Feng
wiley   +1 more source

Detecting high-order interactions of single nucleotide polymorphisms using genetic programming [PDF]

Motivation: Not individual single nucleotide polymorphisms (SNPs), but high-order interactions of SNPs are assumed to be responsible for complex diseases such as cancer. Therefore, one of the major goals of genetic association studies concerned with such
Schwender, Holger, Ickstadt, Katja, Bernholt, Thorsten, Nunkesser, Robin, Wegener, Ing   +4 more
core  

Genetic and B Cell Functional Studies of X-Linked Immunodeficiencies [PDF]

, 1988
Eight types of X-linked immunodeficiency diseases have been described. In this thesis, I will focus on four, viz X-linked agammaglobulinaemia (XLA), X-linked severe combined immunodeficiency (X-linked SCID), Wiskott-Aldrich syndrome (WAS) and X-linked ...
Lau, Yu Lung
core  

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

The Pathophysiology of Inherited Renal Cystic Diseases

Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a variety of symptoms including renal, hepatic, and cardiovascular manifestations.
Shaarav Ghose, Rupesh Raina, Matthew Satariano   +2 more
core   +1 more source

Interaction of HS1BP3 with cortactin modulates TKS5 localisation, cell secretion and cancer malignancy

Molecular Oncology, EarlyView.
Here, we demonstrate that HS1BP3 interacts with Cortactin through a proline‐rich region (PRR3.1) and show that this interaction, and HS1BP3 itself, promote cancer cell proliferation and invasion. Inhibition of this interaction leads to build‐up of TKS5 in multivesicular endosomes and altered secretion of CD63 and CD9, providing an explanation for the ...
Arja Arnesen Løchen, Kristiane Søreng, Chiara Veroni, Laura Trachsel‐Moncho, Nagham Asp, Robin Gaupset, Lars Gustav Lyckander, Helene Knævelsrud, Lars Eftang, Anne Simonsen   +9 more
wiley   +1 more source

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.

Human mutation, 2001
L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum and corticospinal tracts, mental retardation, spastic paraplegia, and adducted thumbs ...
Weller, S., Gärtner, Jutta
openaire   +2 more sources