Results 71 to 80 of about 3,237 (188)

Lmx1b is required for the glutamatergic fates of a subset of spinal cord neurons [PDF]

Neural Development, 2016
Abstract Background Alterations in neurotransmitter phenotypes of specific neurons can cause imbalances in excitation and inhibition in the central nervous system (CNS), leading to diseases. Therefore, the correct specification and maintenance of neurotransmitter phenotypes is vital. As with other neuronal properties,
Hilinski, William C., Bostrom, Jonathan R., England, Samantha J., Juarez-Morales, Jose L., Jager, Sarah de, Armant, Olivier, Legradi, Jessica, Straehle, Uwe, Link, Brian A., Lewis, Katharine E.   +9 more
openaire   +4 more sources

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

BMC Nephrology, 2020
Background Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail ...
Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann   +7 more
doaj   +1 more source

Polydopamine‐Based Antioxidant Countermeasures Against Spaceflight‐Induced Neurodegeneration

Small Science, Volume 6, Issue 1, January 2026.
Polydopamine nanoparticles (PDNPs) protect neuron‐like cells from microgravity‐ and cosmic radiation‐induced oxidative stress. Through in‐flight and ground‐based experiments, it has been shown that PDNPs preserve neuronal and mitochondrial function, markedly mitigating transcriptional dysregulation caused by spaceflight.
Alessio Carmignani, Attilio Marino, Matteo Battaglini, Melike Belenli Gümüş, Elisa Carrubba, Michele Balsamo, Giovanni Valentini, Gabriele Mascetti, Marco Vukich, Giada Graziana Genchi, Gianni Ciofani   +10 more
wiley   +1 more source

A Novel CRB2 Mutation Associated With FSGS and ESRD in an Adult Patient

Case Reports in Nephrology, Volume 2026, Issue 1, 2026.
Background Chronic kidney disease (CKD) is a major global health concern, with a substantial proportion of cases that remain of undetermined cause. Mutations in genes affecting podocyte structure and function, are increasingly recognized as causes of focal segmental glomerulosclerosis (FSGS), a common but highly nonspecific histological pattern of ...
Michele Marchini, Sonila Mocka, Matteo Trezzi, Poorani Gurumallesh   +3 more
wiley   +1 more source

Possible interaction between PSPC1 and PSF, and between PSF and LMX1B.

, 2013
(A) PSPC1 is detected in E14.5 midbrain neurons, and has an interaction with PSF in these cells. (B) An interaction with PSF is shown in HIS IP, PSPC1 IP and LMX1B IP, in MN9D cells overexpressing LMX1B-HIS. (C ) Again, PSF interacts with LMX1B, as shown
Marten P. Smidt (53462), Willem A. de Munnik (290579), Elisa J. Hoekstra (290576), Simone Mesman (290577)   +3 more
core   +1 more source

Schematic representation of suggested protein interactions with LMX1B.

, 2013
(A) Interactions were identified by means of immunoprecipitation experiments. Direct interactions between NURR1 and PSF, between PSF and LMX1B and between PSF and PSPC1 were found.
Marten P. Smidt (53462), Willem A. de Munnik (290579), Elisa J. Hoekstra (290576), Simone Mesman (290577)   +3 more
core   +1 more source

ATG8-dependent LMX1B-autophagy crosstalk shapes human midbrain dopaminergic neuronal resilience

, 2023
The LIM homeodomain transcription factors LMX1A and LMX1B are essential mediators of midbrain dopaminergic neuronal (mDAN) differentiation and survival.
Kollareddy, Madhu, Stathakos, Petros, Lane, Jon D, Caldwell, Maeve, Anton, Zuri, Moss, Joanna J, Witzgall, Ralph, Sessions, Richard B, Jimenez Moreno, Natalia, Shoemark, Deborah K   +9 more
core   +1 more source

Transcriptional repression of Plxnc1 by Lmx1a and Lmx1b directs topographic dopaminergic circuit formation

Nature Communications, 2017
Midbrain dopaminergic neurons (mDAs) in the VTA and SNpc project to different regions and form distinct circuits. Here the authors show that transcription factors Lmx1a, Lmx1b, and Otx2 control the axon guidance of mDAs and the segregation of mesolimbic ...
Audrey Chabrat, Guillaume Brisson, Hélène Doucet-Beaupré, Charleen Salesse, Marcos Schaan Profes, Axelle Dovonou, Cléophace Akitegetse, Julien Charest, Suzanne Lemstra, Daniel Côté, R. Jeroen Pasterkamp, Monica I. Abrudan, Emmanouil Metzakopian, Siew-Lan Ang, Martin Lévesque   +14 more
doaj   +1 more source

Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome

American Journal of Ophthalmology Case Reports, 2020
Purpose: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS). Observation: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle ...
Margot A. Gardin, Chiea Chuen Khor, Luis Silva, Einar A. Krefting, Robert Ritch   +4 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, Stéphanie, Woerner, Fan, Yang, Edward J, Oakeley, Bolan, Linghu, Olivier, Gribouval, Marie-Josèphe, Tête, José S, Duca, Lloyd, Klickstein, Amy J, Damask, Joseph D, Szustakowski, Françoise, Heibel, Marie, Matignon, Véronique, Baudouin, François, Chantrel, Jacqueline, Champigneulle, Laurent, Martin, Patrick, Nitschké, Marie-Claire, Gubler, Keith J, Johnson, Salah-Dine, Chibout, Corinne, Antignac   +21 more
openaire   +2 more sources