Results 41 to 50 of about 11,254 (283)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Embryonic stem cells: An alternative approach to developmental toxicity testing

Journal of Pharmacy and Bioallied Sciences, 2012
Stem cells in the body have a unique ability to renew themselves and give rise to more specialized cell types having functional commitments. Under specified growth conditions, these cell types remain unspecialized but can be triggered to become specific ...
S Tandon, S Jyoti
doaj   +1 more source

Neurotoxicity [PDF]

, 2014
Neurotoxicity refers to the direct or indirect effect of chemicals that disrupt the nervous system of humans or animals. Numerous chemicals can produce neurotoxic diseases in humans, and many more are used as experimental tools to disturb or damage the ...
Brust, Creeley, Feldman, Grandjean, Herken, Panzica, Parent, Pessah, Rice, Román, Spencer, Spencer, Tu, Vinken, Yasui, Zawia   +15 more
core   +2 more sources

Teratogenicity and Teratogenic Factors

MOJ Anatomy & Physiology, 2017
Teratology is the science that investigates the congenital malformations and their causes Intrauterine exposure to a toxicant particularly in early pregnancy induces embryonic and fetal changes ranging from none up to malformations and stillbirths The teratogenic agents include some viral spirochetal and protozoal infections physical agents as ionizing
openaire   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

DNA Modifications: Function and Applications in Normal and Disease States

Biology, 2014
Epigenetics refers to a variety of processes that have heritable effects on gene expression programs without changes in DNA sequence. Key players in epigenetic control are chemical modifications to DNA, histone, and non-histone chromosomal proteins ...
Vichithra R. B. Liyanage, Jessica S. Jarmasz, Nanditha Murugeshan, Marc R. Del Bigio, Mojgan Rastegar, James R. Davie   +5 more
doaj   +1 more source

Teratogenic test of Pandanus conoideus var. yellow fruit extract to development of rat embryo (Rattus norvegicus) [PDF]

, 2010
Muna L, Astirin OP, Sugiyarto. 2010. Uji teratogenik ekstrak Pandanus conoideus varietas buah kuning terhadap perkembangan embrio tikus putih (Rattus norvegicus). Nusantara Bioscience 2: 126-134.
ASTIRIN, OKID PARAMA, MUNA, LINTAL, SUGIYARTO,   +2 more
core  

Overview of Neural Tube Defects: Gene–Environment Interactions, Preventative Approaches and Future Perspectives

Biomedicines, 2022
Neural tube defects (NTDs) are the second most common congenital malformations of humans, characterized by impaired development of the central nervous system.
Jasmina Isaković, Iva Šimunić, Denis Jagečić, Valentina Hribljan, Dinko Mitrečić   +4 more
doaj   +1 more source

Tumor-targeting Salmonella typhimurium A1-R regresses an osteosarcoma in a patient-derived xenograft model resistant to a molecular-targeting drug. [PDF]

, 2016
Osteosarcoma occurs mostly in children and young adults, who are treated with multiple agents in combination with limb-salvage surgery. However, the overall 5-year survival rate for patients with recurrent or metastatic osteosarcoma is 20-30% which has ...
Chishima, Takashi, Dry, Sarah M, Eilber, Fritz C, Elliott, Irmina, Endo, Itaru, Federman, Noah, Hiroshima, Yukihiko, Hoffman, Robert M, Igarashi, Kentaro, Kawaguchi, Kei, Kiyuna, Tasuku, Li, Yunfeng, Matsuyama, Ryusei, Murakami, Takashi, Nelson, Scott D, Russell, Tara, Singh, Arun, Tanaka, Kuniya, Yanagawa, Jane, Zhang, Yong, Zhao, Ming   +20 more
core   +2 more sources

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source