Results 31 to 40 of about 145,893 (342)
Craniomandibular trauma and tooth loss in northern dogs and wolves : implications for the archaeological study of dog husbandry and domestication [PDF]
, 2014 Funding: Funding for this project was provided by an ERC Advanced Grant (#295458) to Dr. David Anderson, University of Aberdeen (http://erc.europa.eu). Financial support to Mikhail V.
Jessup, E. +3 more
core +7 more sources
New zebrafish models of neurodegeneration [PDF]
, 2015 In modern biomedicine, the increasing need to develop experimental models to further our understanding of disease conditions and delineate innovative treatments has found in the zebrafish (Danio rerio) an experimental model, and indeed a valuable asset ...
A Nasevicius +28 more
core +2 more sources
ENAM mutations and digenic inheritance
Molecular Genetics & Genomic Medicine, 2019 Background ENAM mutations cause autosomal dominant or recessive amelogenesis imperfecta (AI) and show a dose effect: enamel malformations are more severe or only penetrant when both ENAM alleles are defective.
Hong Zhang +11 more
doaj +1 more source
Unilateral pulmonary hypoplasia in an adult
Medical Journal of Dr. D.Y. Patil University, 2016 Pulmonary hypoplasia is a bronchopulmonary foregut anomaly characterized by a decrease in the number or size of airways, vessels, and alveoli. Unilateral pulmonary hypoplasia is a rare congenital anomaly, which is frequently associated with other ...
Akshay Ajit Shah +2 more
doaj +1 more source
A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome [PDF]
, 2014 <b>Background:</b> Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.<p></p> ...
Donaldson, Malcolm +6 more
core +1 more source
The Structural Adaptations That Mediate Disuse-Induced Atrophy of Skeletal Muscle
Cells, 2023 The maintenance of skeletal muscle mass plays a fundamental role in health and issues associated with quality of life. Mechanical signals are one of the most potent regulators of muscle mass, with a decrease in mechanical loading leading to a decrease in
Ramy K. A. Sayed +3 more
doaj +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
Unilateral Internal Carotid Artery Hypoplasia Incidentally Found in Adult Patient
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013 Unilateral hypoplasia of the internal carotid artery, is an extremely rare conjenital anomaly. It is usually diagnosed incidentally during radiological examination for another reason.
Cenk Aypak +4 more
doaj +1 more source
Ecology and Evolution, 2022 Climate affects living ecosystems and defines species physiology. Climate change causes certain stress on animals, recorded as Enamel Hypoplasia (EH). Proboscideans, the mega herbivores, were extensively represented in the Siwaliks of Pakistan between ...
Muhammad Ameen +4 more
doaj +1 more source
Advanced Science, EarlyView.Identifying disease‐causing genes in neurocognitive disorders remains challenging due to variants of uncertain significance. CLinNET employs dual‐branch neural networks integrating Reactome pathways and Gene Ontology terms to provide pathway‐level interpretability of genomic alterations.
Ivan Bakhshayeshi +5 more
wiley +1 more source