Research

Disease: Neonatal alloimmune thrombocytopenia

• <em>In vitro</em> analysis of anti-HPA-1a dependent platelet phagocytosis and its inhibition using a new whole blood phagocytosis assay (WHOPPA)
• A Case of Neonatal Alloimmune Thrombocytopenia Following Maternal Pemphigoid Gestationis
• A case of neonatal thrombocytopenia due to maternal Helicobacter pylori-associated immune thrombocytopenia
• A Case of Non-purpuric Neonatal Alloimmune Thrombocytopenia Secondary to ABO Incompatibility
• A rare case of congenital amegakaryocytic thrombocytopenia associated with possible neonatal alloimmune thrombocytopenia and neutropenia by anti-HLA antibodies

Disease: Ubiquitin Disorder

• Abolishing UCHL1's hydrolase activity exacerbates ischemia-induced axonal injury and functional deficits in mice
• Acute exposure to polystyrene nanoplastics induces unfolded protein response and global protein ubiquitination in lungs of mice
• An engineered DNA aptamer-based PROTAC for precise therapy of p53-R175H hotspot mutant-driven cancer
• Andrographolide influences IDD cell autophagy and oxidative stress under mechanical pressure via miR-9/FoxO3/PINK1/Parkin molecular axis
• Autism risk gene <em>Cul3</em> alters neuronal morphology via caspase-3 activity in mouse hippocampal neurons

Disease: Pseudo-Zellweger syndrome

• A case of pseudo-Zellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein. Comparison of two cases of Zellweger syndrome
• A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
• A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
• A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault-like syndrome with renal defects
• A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)

Disease: Pseudoxanthoma elasticum- dominant form

• Autosomal dominant pseudoxanthoma elasticum
• Generalized pseudoxanthoma elasticum combined with vitamin K dependent clotting factors deficiency
• Genetics of hereditary cutaneous diseases associated with digestive tract involvement
• Heterogeneity of pseudoxanthoma elasticum: delineation of a new form?
• Light and electron microscopy of pseudoxanthoma elasticum

Disease: Pseudoxanthoma elasticum- forme fruste

• A case of angioid streaks that produced choroidal neovascularization after the onset of unilateral acute retinopathy in pseudoxanthoma elasticum
• A Case of Pseudoxanthoma Elasticum with juvenile-onset hypertension
• A Rare Case of Pseudoxanthoma Elasticum Identified by Ocular Angioid Streaks
• ABCC6 deficiency and bone loss: A double benefit of etidronate for patient presenting with pseudoxanthoma elasticum?
• Acquired pseudoxanthoma elasticum-like syndrome and pyruvate kinase deficiency: a case of iron overload?