Results 21 to 30 of about 4,772 (187)
Frontiers in Physiology, 2023 The calvaria (top part of the skull) is made of pieces of bone as well as multiple soft tissue joints called sutures. The latter is crucial to the growth and morphogenesis of the skull, and thus a loss of calvarial sutures can lead to severe congenital ...
Angel Cabrera Pereira +15 more
doaj +1 more source
Mediators of Inflammation, 2022 Osteoarthritis (OA), a chronic degenerative joint disease, always occurred in the aging population. There is evidence suggests that chondrocytes’ survival, inflammation, and apoptosis play critical roles in OA pathogenesis.
Yiping Mu, Lining Wang, Ling Fu, Qi Li
doaj +1 more source
Genetic analysis of a pedigree with nail-patella syndrome and literature review [PDF]
Xin yixue, 2023 Objective To analyze the clinical and molecular genetic features in one pedigree with nail-patella syndrome（NPS）， and provide evidence for genetic counseling and reproductive guidance for this family.
Liu Yingwen, Zhang Yuxin, Yan Lulu, Han Chunxiao, Li Haibo
doaj +1 more source
Kaohsiung Journal of Medical Sciences, 2021 LIM homeobox transcription factor 1‐beta (LMX1B) has recently been found to be highly expressed in advanced gliomas and is associated with poor survival. However, the regulatory molecular mechanism of LMX1B expression in gliomas remains unclear.
Xu Guo +4 more
doaj +1 more source
An efficient platform for astrocyte differentiation from human induced pluripotent stem cells [PDF]
, 2017 Summary: Growing evidence implicates the importance of glia, particularly astrocytes, in neurological and psychiatric diseases. Here, we describe a rapid and robust method for the differentiation of highly pure populations of replicative astrocytes from ...
Abdelaal, Rawan +13 more
core +6 more sources
Nail-Patella Syndrome and Glaucoma: A Case Report and Review of the Literature
Case Reports in Ophthalmology, 2022 Nail-patella syndrome (NPS) is a rare autosomal dominant disease characterized by nail dysplasia, aplastic or hypoplastic patellae, elbow dysplasia, and presence of iliac horns. Renal or ocular abnormalities are also associated with the disease.
Nicola Pallozzi Lavorante +5 more
doaj +1 more source
Molecular Ontology of the Nucleus of Solitary Tract. [PDF]
J Comp NeurolUsing histologic and transcriptomic analysis, we found that co‐expression of the transcription factors Lmx1b and Phox2b identifies glutamatergic neurons in the nucleus of the solitary tract (NTS), except for a caudal‐ventral band of neurons that include Gcg‐expressing neurons, which produce glucagon‐like peptide 1 (GLP‐1).
Gasparini S +4 more
europepmc +2 more sources
Frontiers in Endocrinology, 2022 Nail-patella syndrome (NPS, OMIM #161200) is a rare autosomal dominant disorder with symptoms from many different parts of the body, including nails, knees, elbows, pelvis, kidneys and eyes.
Hillevi Lindelöf +9 more
doaj +1 more source
LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement [PDF]
Journal of the American Society of Nephrology, 2013 LMX1B encodes a homeodomain-containing transcription factor that is essential during development. Mutations in LMX1B cause nail-patella syndrome, characterized by dysplasia of the patellae, nails, and elbows and FSGS with specific ultrastructural lesions of the glomerular basement membrane (GBM).
Olivia, Boyer +21 more
openaire +2 more sources
LMX1B transactivation and expression in nail-patella syndrome [PDF]
Human Molecular Genetics, 2000 Lmx1b, a member of the LIM homeodomain protein family, is essential for the specification of dorsal limb fates at the zeugopodal and autopodal level in vertebrates. We and others have shown that a skeletal dysplasia, nail-patella syndrome (NPS), results from mutations in LMX1B.
S D, Dreyer +8 more
openaire +2 more sources