Results 71 to 80 of about 9,740,536 (302)

Evaluation of D-loop hypervariable region I variations, haplogroups and copy number of mitochondrial DNA in Bangladeshi population with type 2 diabetes

Heliyon, 2021
The profound impact of mitochondrion in cellular metabolism has been well documented. Since type 2 diabetes (T2D) is a metabolic disorder, mitochondrial dysfunction is intricately linked with the disease pathogenesis.
Sajoy Kanti Saha, Abdullah Al Saba, Md. Hasib, Razoan Al Rimon, Imrul Hasan, Md. Sohrab Alam, Ishtiaq Mahmud, A.H.M. Nurun Nabi   +7 more
doaj   +1 more source

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

FEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang, Ruslana Romaniuk, Hristo L. Svilenov   +2 more
wiley   +1 more source

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of Autism spectrum disorders [PDF]

, 2012
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at ...
Assouline B., Gillberg I. C., Gillberg, C, Gillberg, I Carina, Gillberg, I.C., Mouren, M., Mouren, M-, Sequeira Ana F., Boeckers, TM, Konyukh, Marina, Chaste, P., Bolton, P, Kantojarvi, K, Kopp Marnie, Bourgeron Thomas, Konyukh Marina, Oriane Mercati, Lathrop, Mark, Leboyer, Marion, Delorme Richard, Anthony P. Monaco (184852), Råstam, Maria,, Freitag, C.M., Rastam Maria, Järvelä I., Pinto, D., Fauchereau, F., Curran Sarah, Leblond, C.S., Chiocchetti, A., Vicente, Astrid, Waltes, R., Collier, David A, Roberto Toro, Bourgeron, T, Bacchelli E., Martin Poot (184849), Poustka, F., Nygren Gudrun, Järvelä, Irma, Vanhala R., Elena Maestrini (184907), Vicente, Astrid M., Henrik Anckarsäter (184814), Järvelä Irma, Barbara Oliveira, Agatino Battaglia, Klauck S. M., Diana Zelenika (69803), Delorme, R, Marie-Christine Mouren (184946), Scherer Stephen W., Mouren Marie-Christine, Gillberg, IC, Holt Richard, Waltes R., Christian Proepper (184780), Fauchereau, Fabien, Duketis E., Fritz Poustka (184874), Oriane Mercati (184839), Klauck, Sabine M., Scherer, SW, Fauchereau Fabien, Vanhala, R, Ruta L., Collier, DA, Klauck, Sabine M, Lemière N., Oliveira, B, Mazzone, L, Oliveira, G, Mercati, O., Sequeira, Ana, F., Catalina Betancur, Marnie Kopp, Battaglia Agatino, Marion Leboyer, Boeckers, Tobias M, Skuse David, Scherer, Stephen W, Mouren M. C., Poot, Martin, Huguet, Guillaume, Mouren, M.C., Marina Konyukh, Andreas Chiocchetti (184869), Anthony P Monaco, Dominique Bonneau, Bonneau, D, Regnault, Beatrice, Leblond, Claire S., Fauchereau F., Ruta, L, Chaste, Pauline, Gillberg, Christopher, Irma Järvelä, Luigi Mazzone, Mark Lathrop, Mouren, Marie-Christine, Pinto D., Melke, Jonas,, Holt, Richard, Pauline Chaste, Guillaume Huguet (184797), Vincent Guinchat, Boeckers, Tobias, M., Guinchat Vincent, Lemière, Nathalie, Brigitte Assouline, Bolton, P., Zelenika Diana, Mazzone L., Kantojärvi Katri, Christine M. Freitag (184876), Claire S. Leblond (184759), Leblond, CS, Dominique Bonneau (144939), Raija Vanhala (184859), Oliveira G., Richard Delorme (184774), Huguet G., Raija Vanhala, Mazzone Luigi, Liliana Ruta, Anckarsäter, Henrik,, Astrid Vicente (184919), Gillberg I. Carina, Bourgeron, Thomas, Anckarsäter, H., Gudrun Nygren (184819), Bacchelli, Elena, Skuse, D., Bacchelli, E, Klauck Sabine M., Bolton Patrick, Chiocchetti A., Boeckers Tobias M., Scherer, Stephen W., Freitag, Christine,, Leblond, Claire, S., Nygren, Gudrun, Delepine Marc, Betancur, C, Leboyer M., Collier, David,, Lemière, N., Poot, M, Lund University., Leblond Claire S., Monaco, Anthony P., Gillberg, C., Poot Martin, Oliveira Barbara, Pauline Chaste (184806), Barbara Oliveira (184915), Boeckers, Tobias M., Devillard F., Chaste Pauline, Delorme R., Mouren M. -C., Melke, J., Maestrini E., Jonas Melke, Curran, S, Bonneau, Dominique, Poot M., Lemière Nathalie, Bourgeron T., Freitag Christine M., Marnie Kopp (184880), Lathrop Mark, Maestrini, Elena, Devillard, F., Mazzone, L., Assouline Brigitte, Böckers, Tobias M., Guillaume Huguet, Anckarsater, H, Oliveira B., Marie-Christine Mouren, Beatrice Regnault (5649310), Poustka Fritz, Guinchat V., Curran S., Collier, David A., Minopoli, F., Anckarsäter Henrik, Thomas Bourgeron (102497), Vanhala, Raija, Dalila Pinto (184925), David Skuse (184848), Sabine M. Klauck (184871), Delepine, Marc, Vicente, A, Nygren, Gudrun,, Collier David A., Toro Roberto, Curran, Sarah, Vanhala, R., Boeckers, Tobias,, Sequeira, AF, Ey, Elodie, Devillard, F, Collier, David, A., Sarah Curran, Brigitte Assouline (184942), Betancur C., Duketis, E, Freitag, Christine M., Oliveira Guiomar, Battaglia, A., Freitag, Christine, M., Pinto Dalila, Delorme, Richard, Stephen W Scherer, Gillberg, Christopher,, Pinto, Dalila, Chiocchetti Andreas, I. Carina Gillberg (184823), Elena Maestrini, Freitag, Christine M, Chaste P| Ey E., Henrik Anckarsäter, Guinchat, V., Bonneau, D., Battaglia, A, Kantojärvi, K., Vincent Guinchat (184933), Waltes, Regina, Jarvela, I, Holt, R., Skuse, David, Marc Delepine, Françoise Devillard, Ana F Sequeira, Rastam M., Elena Bacchelli (184887), Betancur Catalina, Tobias M Boeckers, Minopoli Fiorella, Poot, M., Mouren, M-C, Gillberg Christopher, Sequeira, Ana F., Klauck, SM, Proepper, C, Proepper, C., Jonas Melke (184828), Fiorella Minopoli (184890), Toro R., David A. Collier (184865), Leboyer, M., Devillard, Françoise, Mercati, O, Kopp, M., Melke, Jonas, Gillberg I.C., Zelenika D., Duketis Eftichia, Monaco Anthony P., Fabien Fauchereau (184835), Heinrich, J., Jutta Heinrich (184766), Delepine, M, Boeckers, T.M., Holt, R, Patrick Bolton (184868), Vanhala Raija, Fiorella Minopoli, Andreas Chiocchetti, Bacchelli, E., Monaco, A.P., Guiomar Oliveira, Christopher Gillberg, Proepper, Christian, Nygren G., Poustka, F, Skuse D., Bolton, Patrick F., Melke Jonas, Nygren, G, Guinchat, Vincent, Maestrini, E, Skuse, D, Collier D. A., Lathrop, M, Elodie Ey (184809), Kantojärvi K., Bourgeron, T., Gillberg, I. Carina, Delepine, M., Huguet, G., Agatino Battaglia (184898), Ruta, Liliana, Rastam, M., Zelenika, D, Sequeira, Ana,, Richard Holt (184851), Mercati, Oriane, Liliana Ruta (111348), Konyukh M., Klauck, S.M., Maestrini Elena, Duketis, Eftichia, Monaco, AP, Luigi Mazzone (184903), Leblond, Claire S, Scherer, Stephen,, Leblond, Claire,, Oliveira, Barbara, Guiomar Oliveira (184923), Thomas Bourgeron, Holt R., Astrid Vicente, Ana F. Sequeira (184911), Leboyer Marion, Toro, R., Leboyer, M, Heinrich, J, Mercati O., Vicente A., Heinrich J., Lathrop M., Regnault, B, Duketis, E., Waltes Regina, Kantojärvi, Katri, Lemiere, N, Maria Rastam (184811), Christine M Freitag, Konyukh, M, Regnault Beatrice, State, M., Oliveira, B., Christopher Gillberg (184954), Katri Kantojärvi (184856), Rastam, Maria, Stephen W. Scherer (137813), Sequeira A. F., Poustka F., Fauchereau, F, Assouline, B, Scherer S. W., I Carina Gillberg, Irma Järvelä (184854), Konyukh, M., Scherer, Stephen, W., Elena Bacchelli, Fritz Poustka, Sequeira, Ana F, Collier, D.A., Sequeira, A.F., Battaglia A., Elodie Ey, Richard Delorme, Toro, R, Assouline, B., Bolton, Patrick, Guinchat, V, Françoise Devillard (184938), Gillberg C., Nathalie Lemière, Järvelä, I., Jutta Heinrich, Leblond C. S., Mazzone, Luigi, Proepper Christian, Lathrop, M., Eftichia Duketis (184883), Bacchelli Elena, Betancur, Catalina, Freitag C. M., Chiocchetti, Andreas, Zelenika, Diana, Oliveira, G., Dalila Pinto, Minopoli, Fiorella, Ey Elodie, Vicente Astrid, Ruta, L., Monaco A. P., Waltes, R, Ey E., Minopoli F., Chaste, P, Toro, Roberto, Catalina Betancur (184790), Gudrun Nygren, Regina Waltes (184878), Huguet Guillaume, Sabine M Klauck, Klauck, Sabine, M., Melke, J, Tobias M. Boeckers (184958), Zelenika, D., Anckarsäter H., Proepper C., Kopp, M, Klauck, Sabine,, Marc Delepine (184928), Roberto Toro (184832), Poustka, Fritz, Huguet, G, Martin Poot, Bolton P., Delepine M., Monaco, Anthony P, Vicente, A.M., David Skuse, Bonneau D., Vicente, A., Rastam, M, Beatrice Regnault, Melke J., Kopp M., Ey, E., Heinrich, Jutta, Eftichia Duketis, Nygren, G., Heinrich Jutta, Regnault, B., Kopp, Marnie, Pinto, D, Chaste P., Maestrini, E., Katri Kantojärvi, Bonneau Dominique, Gillberg, I Carina,, Fabien Fauchereau, Mark Lathrop (17971), Minopoli, F, Anckarsäter, Henrik, Devillard Françoise, Marina Konyukh (184802), Nathalie Lemière (184844), Delorme, R., Richard Holt, Assouline, Brigitte, Maria Rastam, Oliveira, Guiomar, Freitag, CM, Regnault B., Curran, S., Christian Proepper, Ruta Liliana, Scherer, S.W., Battaglia, Agatino, Geburtig-Chiocchetti, Andreas, Marion Leboyer (184950), Patrick Bolton, Betancur, C., Regina Waltes, Diana Zelenika, Claire S Leblond, David A Collier, Sarah Curran (184863), Chiocchetti, A, Mercati Oriane, Boeckers T. M., Ey, E   +460 more
core   +1 more source

Zebrafish as a tool to study schizophrenia-associated copy number variants

Disease Models & Mechanisms, 2020
Schizophrenia remains one of the most debilitating human neurodevelopmental disorders, with few effective treatments and striking consequences felt by individuals, communities and society as a whole.
Philip D. Campbell, Michael Granato
doaj   +1 more source

Liver organoids: modelling complexity in homeostasis and disease

FEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

Copy number variation of Fc gamma receptor genes in HIV-infected and HIV-tuberculosis co-infected individuals in Sub-Saharan Africa [PDF]

, 2013
AIDS, caused by the retrovirus HIV, remains the largest cause of morbidity in sub-Saharan Africa yet almost all genetic studies have focused on cohorts from Western countries.
F. Mugusi (7640813), Makonnen, Eyasu, Bowdrey, Jennifer, Viskaduraki Maria, Lee R. Machado (7638830), Eleni Aklillu (316254), Eyasu Makonnen (157087), Mugusi Sabina, Omary Minzi, Mugusi Ferdinand, Getachew Aderaye, Hollox, Edward J, Mohammed Janabi, Yimer Getnet, Machado, Lee, J. Bowdrey (7640783), Eleni Aklillu, Maria Viskaduraki (481734), Bowdrey Jennifer, W. Amogne (7640801), Habtewold Abiy, Minzi Omary, Viskaduraki, Maria, A. Habtewold (7640789), M. Viskaduraki (7640816), Ngaimisi Eliford, Ferdinand Mugusi, Jennifer Bowdrey (481733), Mugusi, Ferdinand, Lee R Machado, Edward J. Hollox (7583051), Abiy Habtewold, Wondwossen Amogne (338194), Lee R. Machado, L. R. Machado (7640780), Sabina Mugusi (316245), O. Minzi (7640792), G. Aderaye (7640810), Aklillu Eleni, Wondwossen Amogne, S. Mugusi (7640804), Getnet Yimer (338188), Ngaimisi, Eliford, Amogne Wondwossen, G. Yimer (7640798), Machado Lee R., E. Aklillu (7640819), Aderaye, Getachew, Hollox Edward J., Minzi, Omary, Aderaye Getachew, Omary Minzi (316248), Makonnen Eyasu, Maria Viskaduraki, Abiy Habtewold (338191), Habtewold, Abiy, E. Ngaimisi (7640786), Jennifer Bowdrey, Eliford Ngaimisi (316246), Eliford Ngaimisi, Mugusi, Sabina, E. Makonnen (7640795), Yimer, Getnet, Amogne, Wondwossen, Mohammed Janabi (431118), Eyasu Makonnen, Edward J. Hollox, Janabi, Mohammed, Aklillu, Eleni, Machado, Lee; id_orcid, Janabi Mohammed, Edward J Hollox, M. Janabi (7640807), Ferdinand Mugusi (214835), Sabina Mugusi, Getnet Yimer, Getachew Aderaye (338201)   +76 more
core   +2 more sources

Genomic variability in Mexican chicken population using copy number variants

BMC Genetics, 2017
Background Copy number variations are genome polymorphism that influence phenotypic variation and are an important source of genetic variation in populations.
E. Gorla, M. C. Cozzi, S. I. Román-Ponce, F. J. Ruiz López, V. E. Vega-Murillo, S. Cerolini, A. Bagnato, M. G. Strillacci   +7 more
doaj   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Genetically complex epilepsies, copy number variants and syndrome constellations [PDF]

, 2010
Epilepsy is one of the most common neurological disorders, with a prevalence of 1% and lifetime incidence of 3%. There are numerous epilepsy syndromes, most of which are considered to be genetic epilepsies. Despite the discovery of more than 20 genes for
Mulley, J., Heather C Mefford, Mefford, H., John C Mulley   +3 more
core   +1 more source

The Effect of Algorithms on Copy Number Variant Detection

PLoS ONE, 2010
The detection of copy number variants (CNVs) and the results of CNV-disease association studies rely on how CNVs are defined, and because array-based technologies can only infer CNVs, CNV-calling algorithms can produce vastly different findings. Several authors have noted the large-scale variability between CNV-detection methods, as well as the ...
Debby W Tsuang, Steven P Millard, Benjamin Ely, Peter Chi, Kenneth Wang, Wendy H Raskind, Sulgi Kim, Zoran Brkanac, Chang-En Yu   +8 more
openaire   +4 more sources