Results 101 to 110 of about 939,325 (312)

Genetic diseases and molecular genetics [PDF]

Nephrology Dialysis Transplantation, 2013
C. Legendre, D. Cohen, Y. Delmas, T. Feldkamp, D. Fouque, R. Furman, O. Gaber, L. Greenbaum, T. Goodship, H. Haller, M. Herthelius, M. Hourmant, C. Licht, B. Moulin, N. Sheerin, A. Trivelli, C. L. Bedrosian, C. Loirat, C. Legendre, S. Babu, D. Cohen, Y. Delmas, R. Furman, O. Gaber, L. Greenbaum, M. Hourmant, T. Jungraithmayr, Y. Lebranchu, M. Riedl, N. Sheerin, C. L. Bedrosian, C. Loirat, N. Sheerin, C. Legendre, L. Greenbaum, R. Furman, D. Cohen, A. O. Gaber, C. Bedrosian, C. Loirat, H. Haller, C. Licht, P. Muus, C. Legendre, K. Douglas, M. Hourmant, M. Herthelius, A. Trivelli, T. Goodship, G. Remuzzi, C. Bedrosian, C. Loirat, A. Kourouklaris, K. Ioannou, I. Athanasiou, K. Demetriou, A. Panagidou, M. Zavros, N. Y. Rodriguez C, M. Blasco, C. Arcal, L. F. Quintana, S. Rodriguez de Cordoba, J. M. Campistol, N. Bachmann, T. Eisenberger, C. Decker, H. J. Bolz, C. Bergmann, F. Pesce, S. N. Cox, G. Serino, G. De Palma, F. P. Sallustio, F. Schena, M. Falchi, M. Pieri, C. Stefanou, A. Zaravinos, K. Erguler, G. Lapathitis, H. Dweep, C. Sticht, N. Anastasiadou, I. Zouvani, K. Voskarides, N. Gretz, C. C. Deltas, A. Ruiz, O. Bonny, F. Sallustio, G. Serino, C. Curci, S. Cox, G. De Palma, F. Schena, E. Kemter, S. Sklenak, B. Aigner, R. Wanke, T. M. Kitzler, J. L. Moskowitz, S. E. Piret, K. Lhotta, A. Tashman, E. Velez, R. V. Thakker, P. Kotanko, J. Leierer, M. Rudnicki, P. Perco, C. Koppelstaetter, G. Mayer, M. J. N. Sa, S. Alves, H. Storey, F. Flinter, P. J. Willems, F. Carvalho, J. Oliveira, M. Arsali, L. Papazachariou, P. Demosthenous, A. Lazarou, M. Hadjigavriel, C. Stavrou, L. Yioukkas, K. Voskarides, C. Deltas, M. Zavros, A. Pierides, M. Arsali, P. Demosthenous, L. Papazachariou, K. Voskarides, M. Kkolou, M. Hadjigavriel, M. Zavros, C. Deltas, A. Pierides, H. R. Toka, S. Dibartolo, B. Lanske, E. M. Brown, M. R. Pollak, A. Familiari, B. Zavan, S. Sanna Cherchi, A. Fabris, R. Cristofaro, G. Gambaro, A. D'Angelo, F. Anglani, H. Toka, D. Mount, M. Pollak, G. Curhan, G. Sengoge, T. Bajari, A. Kupczok, A. von Haeseler, M. Schuster, W. Pfaller, P. Jennings, A. Weltermann, S. Blake, G. Sunder-Plassmann, A. Kerti, R. Csohany, L. Wagner, E. Javorszky, E. Maka, T. Tulassay, K. Tory, J. Kingswood, N. Nikolskaya, J. Mbundi, J. Kingswood, S. Jozwiak, E. Belousova, M. Frost, R. Kuperman, M. Bebin, B. Korf, R. Flamini, M. Kohrman, S. Sparagana, J. Wu, T. Brechenmacher, K. Stein, J. Bissler, D. Franz, J. Kingswood, B. Zonnenberg, M. Frost, W. Cheung, J. Wang, T. Brechenmacher, D. Lam, J. Bissler   +199 more
openaire   +3 more sources

Molecular genetics for familial hypercholesterolemia [PDF]

Reviews in Cardiovascular Medicine, 2022
Nicola Marziliano, Alessandro Medoro, Stefano Folzani, Mariano Intrieri, Claudio Reverberi   +4 more
doaj   +1 more source

The ubiquitin ligase RNF115 is required for the clearance of damaged lysosomes

FEBS Letters, EarlyView.
Upon lysosomal rupture, an E3 ubiquitin ligase RNF115 translocates from the cytosol to the damaged lysosomal membrane. Moreover, RNF115 depletion impairs the clearance of damaged lysosomes, identifying it as a key regulator of lysosomal quality control.
Sae Nakanaga, Toshiki Takahashi, Akiko Kuma, Hiroyuki Kawahara   +3 more
wiley   +1 more source

Case Report Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech

, 2011
We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a ...
N.A. Davani, Soysal, YASEMİN, Imirzalioglu, N., Soysal, Y., J. Vermeesch, N. Şensoy, Sensoy, N., Y. Soysal, Hekimler, K., Davani, N. A., N. Imirzalıoğlu, Vermeesch, J., K. Hekimler   +12 more
core   +1 more source

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

FEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

Home testing for COVID-19: lessons from direct to consumer genetics

, 2020
This article is made available for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source.
Halverson, Colin, Wilson, Theodore E.
core   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

Human molecular genetics / Tom Strachan and Andrew Read.

, 2011
Rev. ed. of: Human molecular genetics 3 / Tom Strachan and Andrew Read. 3rd ed. c2004.Includes bibliographical references and indexes.Book fair 2013.xxv, 781 p.
Strachan, T., Strachan, T. Human molecular genetics 3., Read, Andrew P., 1939-   +2 more
core  

Molecular genetics of sulphate assimilation

, 2000
The importance of sulphur in promoting yield, quality and stress resistance parameters in plants has been highlighted by the recent increased problems of S-deficiency in agriculture.
Hawkesford, M J, Malcolm J Hawkesford, Wray, J L, Wray, J. L., John L Wray, Hawkesford, M. J.   +5 more
core   +1 more source