Results 21 to 30 of about 2,585 (164)
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
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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
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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
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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
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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
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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
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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
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The FASEB Journal, 2006 The tetrapod limb develops asymmetrically along several axes. Lmx1b is responsible for dorsalization of the distal limb; knockout (KO) mice show ventral‐ventral limb patterning and reduction of the scapula, a dorsal structure of the limb girdle. However, the mechanism and downstream targets of Lmx1b are still unknown.
Charmaine Pira +2 more
openaire +1 more source
Frontiers in Pediatrics, 2021 Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns.
Ling Hou +4 more
doaj +1 more source