Results 121 to 130 of about 2,355,082 (334)

Cataract and genetic diseases

Quality in Sport
Despite the decreasing number of cases, cataract is still the leading cause of visual impairment and blindness worldwide. The search for the causes of this disease, its risk factors and the relationship with systemic diseases is the subject of many ...
Mateusz Kozik, Nina Skalska-Dziobek, Weronika Małagocka, Maria Rozpłoch-Sapa, Karolina Chybowska, Mateusz Orłowski, Maria Naruszewicz, Przemysław Cetnarowski, Aleksandra Midro, Karol Zagórski   +9 more
doaj   +1 more source

Amniotic fluid stem cell models: A tool for filling the gaps in knowledge for human genetic diseases

Brain Circulation, 2017
Induced pluripotent stem (iPS) cells have attracted attention in recent years as a model of human genetic diseases. Starting from the diseased somatic cells isolated from an affected patient, iPS cells can be created and subsequently differentiated into ...
Ivana Antonucci, Marci G Crowley, Liborio Stuppia   +2 more
doaj   +1 more source

Cystinuria: biochemical evidence for three genetically distinct diseases. [PDF]

, 1966
Leah Rosenberg, Sylvia J. Downing, J. L. Durant, Stanton Segal   +3 more
openalex   +1 more source

Genetic Disease Burden, Nutrition and Determinants of Tribal Health Care in Chhattisgarh State of Central-East India: A Status Paper [PDF]

, 2011
Tribal health is an important aspect of development and progress of the people. This study pertaining to genetic disease burden, nutritional status and biomedical anthropological assessment with particular reference to determinants of tribal health care ...
Balgir, RS
core   +1 more source

4‐nitrobenzoate inhibits 4‐hydroxybenzoate polyprenyltransferase in malaria parasites and enhances atovaquone efficacy

FEBS Letters, EarlyView.
Atovaquone is an antimalarial requiring potentiation for sufficient efficacy. We pursued strategies to enhance its activity, showing that 4‐nitrobenzoate inhibits 4‐hydroxybenzoate polyprenyltransferase, decreasing ubiquinone biosynthesis. Since atovaquone competes with ubiquinol in mitochondria, 4‐nitrobenzoate facilitates its action, potentiating ...
Ignasi Bofill Verdaguer, Matheus Felipe Santos, Maurício Mazzine Filho, Gabriela Oliveira Castro, Agustín Hernández, Manoel Aparecido Peres, Alejandro Miguel Katzin, Marcell Crispim   +7 more
wiley   +1 more source

Applications of gene modification technologies in the treatment of inherited diseases

Journal of Education, Health and Sport
Introduction and Purpose: In last years gene modification technologies such as CRISPR/Cas9 has had a revolutionary impact on the treatment of inherited diseases.
Maciej Superson, Katarzyna Szmyt, Klaudia Wilk-Trytko, Julia Krasnoborska, Sylwia Samojedny, Katarzyna Szymańska, Kamil Walczak   +6 more
doaj   +1 more source

Tratamento de erros inatos do metabolismo Treatment of inborn errors of metabolism

Jornal de Pediatria, 2008
OBJETIVO: Esta revisão teve por objetivo abordar a situação atual do tratamento dos distúrbios do metabolismo intermediário (principalmente dos aminoácidos, ciclo da uréia e ácidos orgânicos) e das doenças relacionadas a duas organelas subcelulares ...
Ida Vanessa Schwartz, Carolina Fischinger Moura de Souza, Roberto Giugliani   +2 more
doaj   +1 more source

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   +4 more sources

Genetics of infectious diseases

Human Molecular Genetics, 2004
Infectious diseases represent a major health problem worldwide, both in terms of morbidity and mortality. A complex combination of environmental, pathogen and host genetic factors plays a role in determining both susceptibility to particular microbes and the course of infection.
Frodsham, A, Hill, A
openaire   +4 more sources

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source