THE EFFECT OF HYPOTONIC AND HYPERTONIC SOLUTIONS ON FIBROBLASTS OF THE EMBRYONIC CHICK HEART IN VITRO [PDF]
, 1919 Mary Jane Hogue
openalex +1 more source
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
The nucleoprotein content of fibroblasts growing in vitro. 4. Changes in the ribonucleic acid phosphorus (RNAP) and deoxyribonucleic acid phosphorus (DNAP) content [PDF]
, 1949 J. N. Davidson +2 more
openalex +1 more source
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
EFFECT OF LIVER AND PITUITARY DIGESTS ON THE PROLIFERATION OF SARCOMATOUS FIBROBLASTS OF THE RAT [PDF]
, 1928 Lillian E. Baker, Alexis Carrel
openalex +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Identifying the mechanism for superdiffusivity in mouse fibroblast motility [PDF]
arXiv, 2017 We seek to characterize the motility of mouse fibroblasts on 2D substrates. Utilizing automated tracking techniques, we find that cell trajectories are super-diffusive, where displacements scale faster than t^(1/2) in all directions. Two mechanisms have been proposed to explain such statistics in other cell types: run and tumble behavior with L\'{e}vy ...
arxiv
A Method of Obtaining Tissue Cultures of Adult Fibroblasts [PDF]
, 1944 P. R. Peacock, R. I. SHUKOFF
openalex +1 more source
Fibroblast biology. Development and differentiation of synovial fibroblasts in arthritis.
Arthritis research, 2000 Synovial fibroblasts occur as two phenotypes--intimal and subintimal. The specialised intimal phenotype includes expression of uridine diphosphoglucose dehydrogenase (UDPGD), vascular cell adhesion molecule-1 (VCAM-1) and complement decay-accelerating factor (DAF).
openaire +3 more sources
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden +15 more
wiley +1 more source