MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). [PDF]
, 2019 BACKGROUND: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins.
Altunoglu, U +20 more
core +3 more sources
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
Supervisor-subordinate convergence in descriptions of leader-member exchange (LMX) quality: Review and testable propositions [PDF]
, 2009 Theoretical explanations are presented for the poor convergence in supervisor and subordinate leader-member exchange (LMX) descriptions that are commonly reported in the literature.
Schriesheim, CA, Zhou, X(T)
core +1 more source
Glomerulopathy in patients with distal duplication of chromosome 6p [PDF]
, 2016 Background: Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a ...
Bernaciak, Joanna +5 more
core +1 more source
Physiological Reports, Volume 12, Issue 20, October 2024.Abstract The aim was to examine the acute effects of sprint exercise (SIT) on global gene expression in subcutaneous adipose tissue (AT) in healthy subjects, to enhance understanding of how SIT influences body weight regulation. The hypothesis was that SIT upregulates genes involved in mitochondrial function and fat metabolism.
Mona Esbjörnsson +6 more
wiley +1 more source
Pgc-1α Overexpression Downregulates Pitx3 and Increases Susceptibility to MPTP Toxicity Associated with Decreased Bdnf [PDF]
, 2012 Multiple mechanisms likely contribute to neuronal death in Parkinson’s disease (PD), including mitochondrial dysfunction and oxidative stress. Peroxisome proliferator-activated receptor gamma co-activator-1 alpha (PGC-1α) positively regulates the ...
Bass, Caroline E. +7 more
core +8 more sources
Ihmisen mesenkymaalisten kantasolujen erilaistaminen dopaminergisiksi neuroneiksi aivoelektrodimateriaaleilla [PDF]
, 2016 Mesenchymal stem cells (MSCs) are multipotent cells that can differentiate into various cell types depending on their environment, but cannot undergo neurogenesis in normal conditions.
Mynttinen, Elsi
core
Foxp1 and lhx1 coordinate motor neuron migration with axon trajectory choice by gating Reelin signalling. [PDF]
, 2010 Topographic neuronal maps arise as a consequence of axon trajectory choice correlated with the localisation of neuronal soma, but the identity of the pathways coordinating these processes is unknown.
Kania, Artur +8 more
core +4 more sources
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations
Genomics, 2004 LMX1B is a LIM-homeodomain transcription factor required for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Heterozygous loss-of-function mutations in LMX1B cause nail patella syndrome (NPS).
Jennifer A, Dunston +9 more
openaire +2 more sources
Regenerative Medicine for the Aging Brain [PDF]
, 2014 In the central nervous system, cholinergic and dopaminergic (DA) neurons are among the cells most susceptible to the deleterious effects of age. Thus, the basal forebrain cholinergic system is known to undergo moderate neurodegenerative changes during ...
Goya, Rodolfo Gustavo +3 more
core +2 more sources