Results 161 to 170 of about 631,764 (332)

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

Medicina, 2019
Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including ...
Laura Cristina Gironi, Enrico Colombo, Alfredo Brusco, Enrico Grosso, Valeria Giorgia Naretto, Andrea Guala, Eleonora Di Gregorio, Andrea Zonta, Francesca Zottarelli, Barbara Pasini, Paola Savoia   +10 more
doaj   +1 more source

Modeling viral infectious diseases and development of antiviral therapies using human induced pluripotent stem cell-derived systems [PDF]

, 2015
The recent biotechnology breakthrough of cell reprogramming and generation of induced pluripotent stem cells (iPSCs), which has revolutionized the approaches to study the mechanisms of human diseases and to test new drugs, can be exploited to generate ...
Barzon, Luisa, Berto, Alessandro, Desole, Giovanna, Pacenti, Monia, Palu', Giorgio, Sinigaglia, Alessandro, Trevisan, Marta   +6 more
core   +2 more sources

Designed Biomaterial‐Enhanced Cell Transplantation for Neural Tissue Engineering

Aggregate, EarlyView.
Biomaterials offer a promising solution for cell transplantation in the central nervous system by creating a protective environment that enhances cell survival, integration, and functional recovery in preclinical models of neurological disorders. ABSTRACT Cell transplantation therapy in the central nervous system is hindered by limited survival and ...
Yun Tang, Alice Le Friec, Menglin Chen, Di Sun   +3 more
wiley   +1 more source

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

Integrated analysis of variants and pathways in genome-wide association studies using polygenic models of disease [PDF]

arXiv, 2012
Many common diseases are highly polygenic, modulated by a large number genetic factors with small effects on susceptibility to disease. These small effects are difficult to map reliably in genetic association studies. To address this problem, researchers have developed methods that aggregate information over sets of related genes, such as biological ...
arxiv  

Revolutionizing Bone Regeneration: Vascularized Bone Tissue Engineering with Advanced 3D Printing Technology

Aggregate, EarlyView.
Vascularized bone repair scaffolds exhibit superior biomimetic structures and demonstrate significant efficacy in bone defect repair. 3D printing technology offers distinct advantages in the design and fabrication of these scaffolds. This review provides an overview of the manufacturing strategies for vascularized bone repair scaffolds using 3D ...
Jiaxuan Fan, Zichuan Ding, Yongrui Cai, Yahao Lai, Chao Huang, Boyi Jiang, Zongke Zhou, Zeyu Luo   +7 more
wiley   +1 more source

The Virginia Sickle Cell Anemia Awareness Program: Education, Screening, and Counseling [PDF]

, 1977
In 1968, a program of screening for sickle trait carriers was begun as part of the work of the Hematology Division, Department of Medicine, at the Medical College of Virginia.
Cooper, Florence N., Scott, Robert B.
core   +1 more source

Supervised Heterogeneous Multiview Learning for Joint Association Study and Disease Diagnosis [PDF]

arXiv, 2013
Given genetic variations and various phenotypical traits, such as Magnetic Resonance Imaging (MRI) features, we consider two important and related tasks in biomedical research: i)to select genetic and phenotypical markers for disease diagnosis and ii) to identify associations between genetic and phenotypical data.
arxiv  

A Recombinant Antibody Against ALK2 Promotes Tissue Iron Redistribution and Contributes to Anemia Resolution in a Mouse Model of Anemia of Inflammation

American Journal of Hematology, EarlyView.
ABSTRACT Patients with chronic inflammation are burdened with anemia of inflammation (AI), where inflammatory cytokines inhibit erythropoiesis, impede erythropoietin production, and limit iron availability by inducing the iron regulator hepcidin. High hepcidin hinders iron absorption and recycling, thereby worsening the impaired erythropoiesis by ...
Chia‐Yu Wang, Emiliano Melgar‐Bermudez, Diana Welch, Kevin B. Dagbay, Seemana Bhattacharya, Evan Lema, Tyler Daman, Olivia Sierra, Radina Todorova, Papa Makhtar Drame, Rosa Grenha, Ffolliott M. Fisher, Dena Grayson, Lorena Lerner, Samuel M. Cadena, Jasbir Seehra, Jennifer Lachey   +16 more
wiley   +1 more source

Tissue microarrays for testing basal biomarkers in familial breast cancer cases

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: The proteins p63, p-cadherin and CK5 are consistently expressed by the basal and myoepithelial cells of the breast, although their expression in sporadic and familial breast cancer cases has yet to be fully defined.
Rozany Mucha Dufloth, Irina Matos, Fernando Schmitt, Luiz Carlos Zeferino   +3 more
doaj   +1 more source