Results 1 to 10 of about 14,020 (216)

Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy. [PDF]

Mol Ther Nucleic Acids
Hutchinson-Gilford progeria syndrome is a fatal genetic disorder caused by a point mutation in the gene encoding the nuclear envelope protein lamin A/C.
Dzianisava V, Piekarowicz K, Machowska M, Rzepecki R.   +3 more
europepmc   +2 more sources

Mesenchymal Stem Cell Therapy for Hutchinson-Gilford Progeria: Improvements in Arterial Stiffness and Bone Mineral Density in a Single Case. [PDF]

Children (Basel)
Background/Objectives: Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder that cause premature aging due to LMNA mutations and progerin accumulation.
Joo EY, Park JS, Shin HT, Yoo M, Kim SJ, Lee JE, Choi GS.   +6 more
europepmc   +2 more sources

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B

Nucleus, 2023
Several related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA.
Kamsi O. Odinammadu, Khurts Shilagardi, Kelsey Tuminelli, Daniel P. Judge, Leslie B. Gordon, Susan Michaelis   +5 more
doaj   +1 more source

Progeria Presenting with Pyogenic Granuloma in Conjunctiva: A Case Report

Journal of Nepal Medical Association, 2023
Hutchinson-Gilford progeria syndrome frequently exhibits stunted growth and premature ageing. Notable ocular characteristics can encompass a large number of ocular abnormalities.
Sanket Parajuli, Sadhana Sharma, Tina Shrestha   +2 more
doaj   +1 more source

Hereditary syndromes with signs of premature aging [PDF]

Остеопороз и остеопатии, 2020
Aging is a multi-factor biological process that inevitably affects everyone. Degenerative processes, starting at the cellular and molecular levels, gradually influence the change in the functional capabilities of all organs and systems.
Olga O. Golounina, Valentin V. Fadeev, Zhanna E. Belaya   +2 more
doaj   +1 more source

Progeria and Aging—Omics Based Comparative Analysis

Biomedicines, 2022
Since ancient times aging has also been regarded as a disease, and humankind has always strived to extend the natural lifespan. Analyzing the genes involved in aging and disease allows for finding important indicators and biological markers for ...
Aylin Caliskan, Samantha A. W. Crouch, Sara Giddins, Thomas Dandekar, Seema Dangwal   +4 more
doaj   +1 more source

Inguinal herniotomy in a patient with progeria

Journal of Pediatric Surgery Case Reports, 2020
Hutchinson–Gilford progeria syndrome or progeria is a rare finding, Herein, we report a 4-year- old boy with progeria who underwent herniotomy and herniorrhaphy for left indirect inguinal hernia.
Tanvir K. Chowdhury, Afruzul Alam, Mohammad Zonaid Chowdhury, Md. Khurshid Alam Sarwar   +3 more
doaj   +1 more source

Nuclear Pore Complexes Cluster in Dysmorphic Nuclei of Normal and Progeria Cells during Replicative Senescence

Cells, 2021
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease caused by a mutation in LMNA. A G608G mutation in exon 11 of LMNA is responsible for most HGPS cases, generating a truncated protein called “progerin”.
Jennifer M. Röhrl, Rouven Arnold, Karima Djabali   +2 more
doaj   +1 more source

Premature aging of the body - the role of laminopathy [PDF]

Farmacja Polska, 2021
Aging is a process, that went off inevitable and it is associated with the accumulation of macromolecular damage, genomic instability, and loss of heterochromatin. All these changes conduct to deterioration function of stem cells and reducing the ability
Julia Wiśniewska, Zofia Dzierżewicz, Natalia Magdalena Schäfer, Karol Jasiński, Anna Kusakiewicz-Dawid, Dawid Bursy, Urszula Skotnicka-Graca, Radosław Jerzy Balwierz   +7 more
doaj   +1 more source

Case of mandibuloacral dysplasia with type B lipodystrophy

Indian Journal of Paediatric Dermatology, 2021
Introduction: Mandibuloacral dysplasia with type B lipodystrophy (MADB) caused by compound heterozygous mutation in the ZMPSTE24 gene is characterized by generalized lipodystrophy and short stature.
Sanober Burzin Daruwalla, Rachita S Dhurat, Smita Ghate, Rutuja Arali   +3 more
doaj   +1 more source