Results 241 to 250 of about 214,960 (327)

A Novel Class of FKBP12 Ligands Rescues Premature Aging Phenotypes Associated with Myotonic Dystrophy Type 1. [PDF]

Cells
García-Puga M, Gerenu G, Bargiela A, Espinosa-Espinosa J, Mosqueira-Martín L, Sagartzazu-Aizpurua M, Aizpurua JM, Vallejo-Illarramendi A, Artero R, López de Munain A, Matheu A.   +10 more
europepmc   +1 more source

Hyper telomere recombination accelerates replicative senescence and may promote premature aging [PDF]

, 2010
R. Tanner Hagelstrom, Krastan B. Blagoev, Laura J. Niedernhofer, Edwin H. Goodwin, Susan M. Bailey   +4 more
openalex   +1 more source

IgG1 glycosylation highlights premature aging in Down syndrome. [PDF]

Aging Cell
Streng BMM, Van Coillie J, Wildenbeest JG, Binnendijk RS, Smits G, den Hartog G, Wang W, Nouta J, Linty F, Visser R, Wuhrer M, Vidarsson G, Bont LJ, PRIDE study group.   +13 more
europepmc   +1 more source

Premature Aging in Skeletal Muscle Lacking Serum Response Factor

, 2008
Charlotte Lahoute, Athanassia Sotiropoulos, Marilyne Favier, Isabelle Guillet-Deniau, Claude Charvet, Arnaud Ferry, Gillian Butler‐Browne, Daniel Metzger, David Tuil, Dominique Daegelen   +9 more
openalex   +2 more sources

The I4895T mutation in the type 1 ryanodine receptor induces fiber‐type specific alterations in skeletal muscle that mimic premature aging [PDF]

, 2010
Simona Boncompagni, Ryan E. Loy, Robert T. Dirksen, Clara Franzini‐Armstrong   +3 more
openalex   +1 more source

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Loss of H3K9 trimethylation leads to premature aging

Ocampo A, Mrabti C, Yang N, Desdín-Micó G, Alonso-Calleja A, Vílchez-Acosta A, Pico S, Parras A, Piao Y, Schoenfeldt L, Luo S, Haghani A, Brooke RT, Maza MdC, Branchina C, Maroun CY, von Meyenn F, Naveiras O, Horvath S, Sen P, Bignon Y.   +20 more
europepmc   +2 more sources

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

Skewed epithelial cell differentiation and premature aging of the thymus in the absence of vitamin D signaling. [PDF]

Sci Adv
Artusa P, Nguyen Yamamoto L, Barbier C, Valbon SF, Aghazadeh Habashi Y, Djambazian H, Ismailova A, Lebel MÈ, Salehi-Tabar R, Sarmadi F, Ragoussis J, Goltzman D, Melichar HJ, White JH.   +13 more
europepmc   +1 more source

Bronchopulmonary dysplasia as a predictor factor for motor alteration at 6 months corrected age in premature infants [PDF]

, 2010
Priscila Martins, Rosane Reis de Mello, Kátia Silveira da Silva   +2 more
openalex   +1 more source