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Base Editing in Progeria

New England Journal of Medicine, 2021
Extending Life Span in a Mouse Model of Progeria The Hutchinson–Gilford progeria syndrome is an autosomal dominant disease caused by a single point mutation in LMNA, which encodes the lamin A and C...
Maria Eriksson, Jin-Soo Kim
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The Progerias

Journal of Anti-Aging Medicine, 2003
Abstract In a book on cell senescence in human disease, it is negligent not to discuss progerias, yet from what perspective? Does cell senescence cause progerias? Do the progerias cause cell senescence? Are “progcroid syndromes” (Brown, 1995) related to cell senescence at all (Greally et al., 1992)?
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Progeria

Archives of Dermatology, 1989
Progeria, also known as the Hutchinson-Gilford syndrome, is an extremely rare condition that was initially reported by Johnathan Hutchinson in 1886 and further described by Hastings Gilford in 1904. Transmission is most likely from a sporadic autosomal dominant mutation.
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Hutchinson-Gilford Progeria Syndrome: An Overview of the Molecular Mechanism, Pathophysiology and Therapeutic Approach.

Current Gene Therapy, 2021
Lamin A/C encoded by LMNA gene is an important component for the maintenance of the nuclear structure. Mutation in the lamin A/C leads to a group of inherited disorders is known as laminopathies. In the human body, there are several mutations in the LMNA
Md. Mominur Rahman   +7 more
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Ophthalmologic Features of Progeria

American Journal of Ophthalmology, 2017
To establish the natural history of ophthalmic characteristics in Progeria patients and to determine incidence of ocular manifestations.Retrospective case series of patients with Progeria who were seen between 2007 and 2016.Setting: Tertiary-care academic center.Fourteen patients (28 eyes) with Hutchinson-Gilford Progeria syndrome were included for ...
Mark W. Kieran   +5 more
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Progeria and Scleroderma in Infancy

Archives of Pediatrics & Adolescent Medicine, 1971
A patient with progeria had scleroderma in infancy. Although this is the first reported case in the pediatric literature, this association has been previously described in four other patients and it appears to be significant and not a chance occurrence. Therefore, infants with scleroderma should be followed closely for the development of progeria.
Murray Feingold, Richard Kidd
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RADIOLOGICAL FINDINGS IN PROGERIA

Journal of the American Geriatrics Society, 1971
AbstractRoentgen evidence of 15 skeletal features was studied in 4 patients with progeria. Fourteen of the 15 features were noted in either 3 or all 4 patients. Four of these skeletal characteristics have not been noted previously—valgus deformity of the humeral head and neck, temporal variability in the appearance of epiphyseal ossification centers ...
Rafael Garcia-Bunuel   +4 more
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Progeria in siblings

Clinical Radiology, 1976
Progeria or 'prematurely old' is an autosomal recessive trait that appears insidiously at or after the age of 6 months. Two affected siblings are reported showing radiologically progressive attenuation of the clavicles and terminal phalanges, widening of cranial sutures and mandibular hypoplasia. Scleroderma was also present.
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Progeria

1987
Publisher Summary This chapter focuses on progeria, which is a rare syndrome characterized by a combination of infantilism and premature senility that is associated with alopecia, atrophy of subcutaneous fat and muscle, skeletal hypoplasia, dwarfism, and a propensity to fatal atherosclerotic complications during the first two or three decades of life.
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PROGERIA IN TWO BROTHERS

Australasian Journal of Dermatology, 1987
SummaryTwo brothers with features of Progeria (Hutchinson‐Gilford syndrome) are described. Unusual features included ainhum‐like change, and papules over the back of the neck which showed dystrophic calcification on histology.
Vijaya Ramesh, Rakesh K. Jain
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