Results 41 to 50 of about 2,431,050 (332)

Kinetoplastids:related protozoan pathogens, different diseases [PDF]

open access: yes, 2008
Kinetoplastids are a group of flagellated protozoans that include the species Trypanosoma and Leishmania, which are human pathogens with devastating health and economic effects. The sequencing of the genomes of some of these species has highlighted their
Agranoff   +127 more
core   +4 more sources

Prion disease genetics [PDF]

open access: yesEuropean Journal of Human Genetics, 2006
Prion diseases have stimulated intense scientific scrutiny since it was proposed that the infectious agent was devoid of nucleic acid. Despite this finding, genetics has played a key role in understanding the pathobiology and clinical aspects of prion disease through the effects of a series of polymorphisms and mutations in the prion protein gene (PRNP)
openaire   +2 more sources

Genetics of Alzheimer’s Disease [PDF]

open access: yesBioMed Research International, 2013
Alzheimer’s disease is the most common form of dementia and is the only top 10 cause of death in the United States that lacks disease-altering treatments. It is a complex disorder with environmental and genetic components. There are two major types of Alzheimer’s disease, early onset and the more common late onset. The genetics of early-onset Alzheimer’
Ridge, Perry G.   +2 more
openaire   +2 more sources

Advances in related research about hereditary connective tissue diseases and the occurrence and rupture of intracranial aneurysm

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2021
The mechanism of occurrence and rupture of intracranial aneurysm is complex and may involve various environmental and genetic factors. Histopathological studies of intracranial aneurysm suggest a possible relationship between intracranial aneurysm and ...
CHEN Rui⁃qi, GUO Rui, YOU Chao
doaj  

Physiological conditions influencing regenerative potential of stem cells [PDF]

open access: yes, 2016
Stem cells are being used in the treatment of cardivovascular diseases. Here, we review the physiologic and pathologic conditions that impact the regenerative potential of stem cells in the treatment of cardiovascular diseases which include the influence
Avitabile, Daniele   +3 more
core   +1 more source

Sickle Cell Disease Is an Inherent Risk for Asthma in a Sibling Comparison Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Sickle cell disease (SCD) and asthma share a complex relationship. Although estimates vary, asthma prevalence in children with SCD is believed to be comparable to or higher than the general population. Determining whether SCD confers an increased risk for asthma remains challenging due to overlapping symptoms and the ...
Suhei C. Zuleta De Bernardis   +9 more
wiley   +1 more source

Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics [PDF]

open access: yesChildhood Kidney Diseases
With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from
Soo Yeon Kim
doaj   +1 more source

Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT KAT6A syndrome (Arboleda–Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized.
Ye Jee Shim   +8 more
wiley   +1 more source

Socializing Genetic Diseases

open access: yes, 2011
Full text freely available at http://www.sciencemag.org/content/331/6020/1026.3.full or http://www.sciencemag.org/content/331/6020/1026.3.full.pdfInternational audienceThe sequencing of the human genome has been a major scientific adventure of the late ...
Rabeharisoa, Vololona
core   +3 more sources

Chemical Genetics and Orphan Genetic Diseases [PDF]

open access: yesChemistry & Biology, 2005
Many orphan diseases have been identified that individually affect small numbers of patients but cumulatively affect approximately 6%-10% of the European and United States populations. Human genetics has become increasingly effective at identifying genetic defects underlying such orphan genetic diseases, but little progress has been made toward ...
Lunn, Mitchell R., Stockwell, Brent R.
openaire   +2 more sources

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