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Metabolic Bone Diseases Affecting Tooth Eruption: A Narrative Review

CI Papadopoulou, I Sifakakis, S Tournis - Children, 2024 - mdpi.com
13 にちまえ - Tooth eruption is an essential process for the development of the oral and
maxillofacial system. Several inherited and acquired diseases might affect this tightly …

[PDF][PDF] A Pair of Sibling Patients With Premature Aging Syndrome of Unknown Etiology

K Iwai, M Okawada - Cureus, 2024 - cureus.com
35 にちまえ - Premature aging syndrome is a rare condition characterized by premature aging
and death. The exact pathogenic mechanisms underlying most premature aging syndromes …

A Growth-Restricted Neonate with Abnormal Facies and Lax Skin

S Jyothi, RR Prashanth, S Nair… - NeoReviews, 2024 - publications.aap.org
63 にちまえ - DISCUSSION The Condition HGPS is a rare fatal sporadic autosomal dominant
laminopathy, with no ethnic predisposition. The prevalence has been estimated as 1 in 20 …

Exacerbated atherosclerosis in progeria is prevented by progerin elimination in vascular smooth muscle cells but not endothelial cells

I Benedicto, RM Carmona, A Barettino… - Proceedings of the …, 2024 - National Acad Sciences
72 にちまえ - Hutchinson–Gilford progeria syndrome (HGPS) is a rare disease caused by the
expression of progerin, a mutant protein that accelerates aging and precipitates death …

What Causes Premature Coronary Artery Disease?

A Le, H Peng, D Golinsky, M Di Scipio, R Lali… - Current Atherosclerosis …, 2024 - Springer
90 にちまえ - Abstract Purpose of Review This review provides an overview of genetic and non-
genetic causes of premature coronary artery disease (pCAD). Recent Findings pCAD refers …

Skin Hardening and Eczema in a 9-month-old Girl

HL Hanania, CR Hopkins, TJ Herd - Pediatrics in Review, 2024 - publications.aap.org
93 にちまえ - DISCUSSION Differential Diagnosis This 9-month-old infant with mild
developmental delay presents with skin induration and dimpling. A differential diagnosis for …

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions

V Tiwari, MJ Alam, M Bhatia, M Navya, SK Banerjee - Life Sciences, 2024 - Elsevier
146 にちまえ - Lamins are inner nuclear membrane proteins that belong to the intermediate
filament family. Lamin A/C lie adjacent to the heterochromatin structure in polymer form …

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome

MVMB Wilke, M Wick, TL Schwab, RT Starosta… - Genes, 2024 - mdpi.com
167 にちまえ - The LMNA gene encodes lamin A and lamin C, which play important roles in
nuclear organization. Pathogenic variants in LMNA cause laminopathies, a group of …

[PDF][PDF] Developing and Applying a Yeast Model of Hutchinson-Gilford Progeria Syndrome

C Chivers - 2023 - harvest.usask.ca
216 にちまえ - The human premature aging disorder Hutchinson-Gilford progeria syndrome can,
by virtue of its single molecular cause, be introduced to other living systems which allows for …

Engineered domain-inlaid Nme2Cas9 adenine base editors with increased on-target DNA editing and targeting scope

D Zhao, X Gao, J Zhou, J Li, Y Qian, D Wang, W Niu… - BMC biology, 2023 - Springer
237 にちまえ - Background Nme2ABE8e has been constructed and characterized as a compact,
accurate adenine base editor with a less restrictive dinucleotide protospacer-adjacent motif …