[HTML][HTML] Congenital aniridia beyond black eyes: from phenotype and novel genetic mechanisms to innovative therapeutic approaches
Congenital PAX6-aniridia, initially characterized by the absence of the iris, has progressively
been shown to be associated with other developmental ocular abnormalities and systemic …
been shown to be associated with other developmental ocular abnormalities and systemic …
[HTML][HTML] Pathophysiology of aniridia-associated keratopathy: Developmental aspects and unanswered questions
…, R Shalom-Feuerstein, M Lako, S Xapelli, D Aberdam… - The ocular …, 2021 - Elsevier
Aniridia, a rare congenital disease, is often characterized by a progressive, pronounced
limbal insufficiency and ocular surface pathology termed aniridia-associated keratopathy (AAK). …
limbal insufficiency and ocular surface pathology termed aniridia-associated keratopathy (AAK). …
[PDF][PDF] Glycolysis-mediated changes in acetyl-CoA and histone acetylation control the early differentiation of embryonic stem cells
…, S Kempa, J Itskovitz-Eldor, E Meshorer, D Aberdam… - Cell metabolism, 2015 - cell.com
Loss of pluripotency is a gradual event whose initiating factors are largely unknown. Here we
report the earliest metabolic changes induced during the first hours of differentiation. High-…
report the earliest metabolic changes induced during the first hours of differentiation. High-…
[HTML][HTML] miR-203 represses 'stemness' by repressing ΔNp63
…, PR di Val Cervo, D Aberdam… - Cell Death & …, 2008 - nature.com
The epidermis, the outer layer of the skin composed of keratinocytes, is a stratified epithelium
that functions as a barrier to protect the organism from dehydration and external insults. …
that functions as a barrier to protect the organism from dehydration and external insults. …
Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
F Vidal, D Aberdam, C Miquel, AM Christiano… - Nature …, 1995 - nature.com
Pyloric atresia associated with junctional epidermolysis bullosa (PA–JEB), is a rare
inherited disorder characterized by pyloric stenosis and blistering of the skin as primary …
inherited disorder characterized by pyloric stenosis and blistering of the skin as primary …
Abnormal neuronal differentiation and mitochondrial dysfunction in hair follicle-derived induced pluripotent stem cells of schizophrenia patients
One of the prevailing hypotheses suggests schizophrenia as a neurodevelopmental disorder,
involving dysfunction of dopaminergic and glutamatergic systems. Accumulating evidence …
involving dysfunction of dopaminergic and glutamatergic systems. Accumulating evidence …
Cicatricial pemphigoid autoantibodies react with multiple sites on the BP180 extracellular domain
…, LA Diaz, P Bernard, C Bedane, D Aberdam… - Journal of investigative …, 1996 - Elsevier
Cicatricial pemphigoid (CP) is an autoimmune blistering disease that primarily affects mucosal
tissues. Autoantibodies to laminin-5 have previously been detected in certain patients …
tissues. Autoantibodies to laminin-5 have previously been detected in certain patients …
[HTML][HTML] MAPK pathways in ocular pathophysiology: potential therapeutic drugs and challenges
P Moustardas, D Aberdam, N Lagali - Cells, 2023 - mdpi.com
Mitogen-activated protein kinase (MAPK) pathways represent ubiquitous cellular signal
transduction pathways that regulate all aspects of life and are frequently altered in disease. Once …
transduction pathways that regulate all aspects of life and are frequently altered in disease. Once …
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)
D Aberdam, MF Galliano, J Vailly, L Pulkkinen… - Nature …, 1994 - nature.com
… Basement membranes of sweat glands do not react with antibody SE144 (d, inset) but are …
Lanes are also designated by the pedigree L numbers (Fig.2), d, Schematic depiction of a wild …
Lanes are also designated by the pedigree L numbers (Fig.2), d, Schematic depiction of a wild …
microRNA-34a regulates neurite outgrowth, spinal morphology, and function
The p53 family member TAp73 is a transcription factor that plays a key role in many biological
processes, including neuronal development. In particular, we have shown that p73 drives …
processes, including neuronal development. In particular, we have shown that p73 drives …