Results 151 to 160 of about 323,200 (263)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Molecular mechanism of ischemic postconditioning in promoting diabetic ischemic brain injury repair via the microRNA‐34a–BDNF–SIX3 signaling axis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Diabetes combined with ischemic stroke (DMIS) exacerbates brain infarct size and neuronal damage compared to nondiabetic ischemic stroke (IS). This study reveals that microRNA‐34a (miR‐34a) plays a key role in DMIS pathogenesis: miR‐34a directly targets and suppresses brain‐derived neurotrophic factor (BDNF) and Sine oculis homeobox 3 (SIX3), promoting
Ling Zhao   +5 more
wiley   +1 more source

[Physiology of cerebrospinal fluid: cerebrospinal fluid dynamics].

open access: yesIgaku butsuri : Nihon Igaku Butsuri Gakkai kikanshi = Japanese journal of medical physics : an official journal of Japan Society of Medical Physics, 2012
openaire   +2 more sources

Research progress on biomarkers of traumatic brain injury

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen   +8 more
wiley   +1 more source

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