Results 181 to 190 of about 8,076,620 (303)

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Human Induced Pluripotent Stem Cells in Rare Neurological Disorders: Opportunities and Challenges for Disease Modeling and Drug Discovery. [PDF]

Stem Cells Int
Harej Hrkać A, Rački V, Belančić A, Kriz J, Vitezić D, Mršić-Pelčić J, Acharya G, Varshney M, Pilipović K.   +8 more
europepmc   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Generation and characterization of induced pluripotent stem cells from a patient with classic Fabry disease. [PDF]

Intractable Rare Dis Res
Li G, Luan J, Li Z, Yang Y, Shao C, Wang J, Han Z, Wang Q, Zhu Y, Yu C, Cui Y, Han J.   +11 more
europepmc   +1 more source

Animal stroke models and outcome evaluation: A review

Animal Models and Experimental Medicine, EarlyView.
Rodents are the preeminent stroke model species. Large animal models exist too, but are poorly standardized. Ischemic and hemorrhagic experimental models are available, with the intraluminal filament model being predominant. Outcomes are evaluated via quantifying subjects' sensorimotor impairment, cognitive memory faculties, degree of cellular ...
Solsa Cariba, Helen M. Atkinson, Anthony K. C. Chan   +2 more
wiley   +1 more source

Application of human induced pluripotent stem cells for tissue modeling and therapy: are we on track? [PDF]

Stem Cells
Nickel Maunu M, Meulenbelt I, Ramos YFM.
europepmc   +1 more source

Highly efficient transfection of human induced pluripotent stem cells using magnetic nanoparticles

, 2018
Megan A Yamoah,1 Maryam Moshref,1 Janhavi Sharma,1 Wei Chun Chen,1 Hannah A Ledford,1 Jeong Han Lee,2 Karen S Chavez,1 Wenying Wang,2 Javier E López,1 Deborah K Lieu,1 Padmini Sirish,1,3 Xiao-Dong Zhang1,3 1Department of Internal Medicine ...
Lieu DK, López JE, Chen WC, Zhang XD, Yamoah MA, Sirish P, Wang W, Moshref M, Chavez KS, Sharma J, Ledford HA, Lee JH   +11 more
core  

Histological analysis of the spatio‐temporal development of porcine knee cartilage in embryonic and early postnatal stages

Animal Models and Experimental Medicine, EarlyView.
This study dynamically charts the developmental process of the knee joint cartilage from the embryonic stage through to postnatal life, revealing key developmental events including the origin of knee joint development, chondrification, primary ossification, secondary ossification, formation of the cartilage cancal, and formation of the growth plate. It
Yan Nie, Kai Wang, Xuewen Wang, Jinzhu Jing, Zhen Liang, Guoqiang Yan, Wen Feng Guo, Meng Zhang, Wei Zhang, Lei Xiang   +9 more
wiley   +1 more source

Red blood cell differentiation using canine-induced pluripotent stem cells. [PDF]

Stem Cells Transl Med
Kimura K, Tsukamoto M, Shishida K, Sugisaki H, Katahira J, Tanaka M, Kuwamura M, Kol A, Okada M, Iijima M, Nakanishi M, Sugiura K, Hatoya S.   +12 more
europepmc   +1 more source

Animal models for investigating post‐stroke cognitive impairment: A neurovascular trafficking perspective

Animal Models and Experimental Medicine, EarlyView.
Animal models enable mechanistic testing of how ischemic injury disrupts neurovascular trafficking and drives cognitive vulnerability after stroke. Complementary models capture distinct vascular, cellular, white matter, and cognitive features of PSCI.
Pratchaya Kaewkaen
wiley   +1 more source