Results 61 to 70 of about 14,685,767 (350)

Comparative analysis of human tissue interactomes reveals factors leading to tissue-specific manifestation of hereditary diseases.

, 2014
An open question in human genetics is what underlies the tissue-specific manifestation of hereditary diseases, which are caused by genomic aberrations that are present in cells across the human body.
Ruth Barshir (531790), Ilan Y Smoly, Esti Yeger-Lotem, Omer Shwartz, Omer Shwartz (577315), Ruth Barshir, Ilan Y. Smoly (577316), Esti Yeger-Lotem (531791)   +7 more
core   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Unique factorisation of additive induced-hereditary properties

, 2004
An additive hereditary graph property is a set of graphs, closed under isomorphism and under taking subgraphs and disjoint unions. Let ₁,...,ₙ be additive hereditary graph properties.
Farrugia, Alastair, Richter, R.
core   +1 more source

Inherited mutations impair responses to environmental carcinogens: Cancer prevention in mutation carriers [PDF]

, 2011
Some environmental carcinogens may be responsible for a modest increase in the numbers of cancers after years of exposure. Economic or political factors weigh against widespread bans of carcinogens.
Bernard Friedenson, Bernard Friedenson
core   +1 more source

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

FEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva, Ariann E. Mendoza‐Martínez, P. Abril Medina‐Flores, Carlos Campero‐Basaldua, Alexander DeLuna, Soledad Funes   +5 more
wiley   +1 more source

Is intraspecific trait differentiation in Parthenium hysterophorus a consequence of hereditary factors and/or phenotypic plasticity? [PDF]

Plant Divers, 2023
Kaur A, Kaur S, Singh HP, Batish DR.
europepmc   +1 more source

Do women in the community recognize hereditary and sporadic breast cancer risk factors?

, 2005
PURPOSE/OBJECTIVES: To describe knowledge of hereditary, familial, and sporadic breast cancer risk factors among women in the community and to identify characteristics associated with this knowledge. DESIGN: Descriptive, cross-sectional.
Katapodi, Maria C., Aouizerat, BA.
core   +1 more source

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts [PDF]

, 2013
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial cancer and various other cancers, and is caused by a mutation in one of the mismatch repair genes: MLH1, MSH2, MSH6 or PMS2.
Sampson, JR, Capella, G., Moeslein, Gabriela, Moslein, G., Vasen, Hans F. A., Sijmons RH, Renkonen-Sinisalo, L, Genuardi, M, Engel, C., Leon, M., Møller P, Gopie, JP, Bertario, Lucio, Alonso A, Heinimann, K, Genuardi, M., Tejpar, S, Burn J, Rahner, N, Engel, Christoph, PONZ DE LEON, Maurizio, Alonso, A, Wijnen, J.T., Burn, John, Lindblom, Annika, Heinimann, Karl, Lindblom, A, Tejpar, Sabine, Vasen HF, Bertario L, Leon, M.P. de, Thomas HJ, Maurizio Genuardi., Nagengast, FM, Gopie JP, Myrhoj, T., Bernstein I, Hes, Frederik J., Stormorken, Astrid, Myrhoj, Torben, Aktan-Collan, Katja, Wijnen JT, Alonso, A., Tejpar, S., Hodgson, SV, Nagengast, Fokko M., Aretz, S., Vasen, H.F., Myrhoj T, Stormorken A, Moller, P., Engel C, Järvinen HJ, Sampson, Julian R., Karagiannis, JA, Mecklin, JP, Lalloo, F., Engel, C, Capella, G, Bernstein, I., Hodgson SV, Lindblom A, Bertario, L, Jaervinen, Heikki Juhani, Gopie, Jessica P., Karagiannis, John A., Burn, J, Karagiannis JA, Frayling, I.M., Sijmons, Rolf H., Sampson JR, Rahner, N., Ponz de Leon, M, Blanco, I, Aktan Collan K, Møller, P, Hes FJ, Aktan-Collan, K, Blanco, I., Genuardi, Maurizio, Aretz, Stefan, Vasen, HF, Blanco, Ignacio, Nagengast, F.M., Thomas, Huw J. W., Stormorken, A, Lindblom, A., Gopie, J.P., Bertario, L., Moller, Pal, Thomas, H.J.W., Lalloo, Fiona, Rahner N, Renkonen-Sinisalo, Laura, Wijnen, Juul T., Alonso, Angel, Sampson, Julian Roy, Bernstein, Inge, Sijmons, RH, Capella, Gabriel, Mallorca Grp, Jarvinen, H.J., Myrhoj, T, Hes, FJ, Aretz S, Järvinen, HJ, Wijnen, JT, Mallorca group, Vasen, H.F.A., Parc Y, Karagiannis, J.A., Bernstein, I, Hodgson, Shirley V., Rahner, Nils, et al., Parc, Y., Sampson, J.R., Aretz, S, Thomas, H.J., Frayling, Ian M., Capella G, Nagengast FM, Colas, C., Renkonen-Sinisalo, L., Tejpar S, Frayling, IM, Hes, F.J., Renkonen Sinisalo L, Frayling IM, Parc, Y, Mecklin, Jukka-Pekka, Möslein G., de Leon, Maurizio Ponz, Lalloo F, Blanco I, Möslein, G, Hodgson, S.V., Lalloo, F, Heinimann, K., Mecklin, J.P., Colas, C, Thomas, HJ, Colas, Chrystelle, Frayling, Ian Martin, Parc, Yann, Heinimann K, Burn, J., Sijmons, R.H., Stormorken, A., Genuardi M, de Leon, M.P., Colas C, Mecklin JP, Aktan-Collan, K.   +153 more
core   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Hereditary Breast Cancer: Clinical, Pathological and Molecular Characteristics

, 2014
ABSTR ACT: Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25 % of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation.
Martin J. Larsen, Mads Thomassen, Larsen, Martin Jakob; id_orcid, Larsen, Martin J, Anne-Marie Gerdes, Gerdes, Anne-Marie, Torben A. Kruse, Thomassen, Mads, Kruse, Torben A   +8 more
core   +1 more source