Results 81 to 90 of about 1,306,732 (153)

Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9

Stem Cell Research
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu, Jiaxi Shen, Zongkuai Yang, Hangping Fan, Hao Wang, Ping Liang, Tingyu Gong   +6 more
doaj   +1 more source

Laporan kasus: Gizi Buruk Sekunder Akibat Kelainan Genetik: Hutchinson-Gilford Progeria Syndrome [PDF]

, 2018
AbstrakPertumbuhan dan perkembangan adalah fenomena khas yang terjadi pada populasi anak, dibutuhkan pemantauansecara berkala untuk mendeteksi masalah pada asupan nutrisi atau kemungkinan penyakit lainnya.
Hutagaol, Dion D. Samsudin, Devaera, Yoga   +1 more
core   +1 more source

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

The Application of Clinical Genetics, 2020
Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali,
Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF   +5 more
doaj  

Hutchinson-Gilford progeria syndrome

Indian Dermatology Online Journal, 2015
Amar Singh Bhukya, Bellum Siva Nagi Reddy   +1 more
doaj   +1 more source

Expansion Microscopy: A Tool to Investigate Hutchinson-Gilford Progeria Syndrome at Molecular Level

, 2018
Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder characterized by premature aging symptom in children and early death. It is often used as model to understand the molecular mechanism of aging.
Luca Pesce, COZZOLINO, MARCO, Lanzanò, Luca, Alberto Diaspro, Bianchini, Paolo, Paolo Bianchini, Marco Cozzolino, Luca Lanzanò, Diaspro, Alberto, Pesce, Luca   +9 more
core   +1 more source

The Application of a Statistical Model Investigating Reactive Oxygen Species in Premature Ageing Syndromes [PDF]

, 2011
The premature ageing syndromes Hutchison-Gilford Progeria Syndrome (HGPS) and Restrictive Dermopathy (RD) are rare genetic disorders that result in greatly accelerated ageing. RD is neonatal fatal, whereas children suffering from HGPS age approximately 8
MUTER, JOANNE,RUTH
core  

The Medical Mystery of Progeria

, 2017
The thesis deals with Progeria or Hutchinson-Gilford syndrome, the disease of very rapid aging resulting in tightened skin, paucity of subcutaneous fat around the eyes, cataracts, arteriosclerosis and unique skeletal ...
Getmanets, Iryna, Artemenko, Margaryta
core  

Ghrelin delays premature aging in Hutchinson-Gilford progeria syndrome. [PDF]

Aging Cell, 2023
Ferreira-Marques M, Carvalho A, Franco AC, Leal A, Botelho M, Carmo-Silva S, Águas R, Cortes L, Lucas V, Real AC, López-Otín C, Nissan X, de Almeida LP, Cavadas C, Aveleira CA.   +14 more
europepmc   +1 more source

Hutchinson Gilford Progeria Syndrome (HGPS): Potential Treatments

, 2018
The Hutchinson-Gilford Progeria syndrome is a rare genetic disease that causes an early accelerated aging in children; clinically characterized by manifestations affecting skin, musculoskeletal system and blood vessels, also other features supporting ...
Sutiono, D. R. (Dias), Adeline, F. (Fransiska)   +1 more
core  

Progerin cross-linking stiffens the nucleus and impairs mechanosensation in Hutchinson-Gilford progeria syndrome. [PDF]

J Cell Sci
Srivastava LK, Ghagre A, Duchastel-Vassaramva I, Ehrlicher AJ.   +3 more
europepmc   +1 more source