Results 21 to 30 of about 4,807 (209)
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
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
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
Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice
Disease Models & Mechanisms, 2021 Variants in the LIM homeobox transcription factor 1-beta (LMX1B) gene predispose individuals to elevated intraocular pressure (IOP), a key risk factor for glaucoma. However, the effect of LMX1B mutations varies widely between individuals.
Nicholas G. Tolman +11 more
doaj +1 more source
LMX1B-associated gankyrin expression predicts poor prognosis in glioma patients
Journal of International Medical Research, 2020 Objective To explore the potential of the transcription factor LMX1B and downstream gankyrin as prognostic biomarkers of glioma. Methods The expression levels of gankyrin and LMX1B were detected in 52 normal brain specimens and 339 glioma specimens ...
Xu Guo +4 more
doaj +1 more source
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
An Lmx1b-miR135a2 regulatory circuit modulates Wnt1/Wnt signaling and determines the size of the midbrain dopaminergic progenitor pool. [PDF]
PLoS Genetics, 2013 MicroRNAs regulate gene expression in diverse physiological scenarios. Their role in the control of morphogen related signaling pathways has been less studied, particularly in the context of embryonic Central Nervous System (CNS) development.
Angela Anderegg +10 more
doaj +1 more source
Nature Communications, 2021 Nail-patella syndrome (NPS) is characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma and can be caused by haploinsufficiency of LMX1B; however, not all patients harbor pathogenic LMX1B mutations.
Endika Haro +15 more
doaj +1 more source
Neurogenin3 restricts serotonergic neuron differentiation to the hindbrain [PDF]
, 2014 The development of the nervous system is critically dependent on the production of functionally diverse neuronal cell types at their correct locations.
Carcagno, Abel Luis +4 more
core +1 more source