Results 91 to 100 of about 10,371 (225)

War without weapons:constitution of healthy and pathological phenotypes associated with polymorphisms in genes involved in the maintenance of genome integrity [PDF]

, 2012
Capacity to repair DNA damage may vary significantly between individuals coming out as healthy on routine physical and laboratory examinations. This variance does not generally cause distress or disease unless in case that specific triggers are present ...
Khalil, Hilal S., Oluwaseun, Omoboye Adebola   +1 more
core   +2 more sources

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

Developmental Medicine &Child Neurology, Volume 67, Issue 2, Page 186-194, February 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16100 This original article is commented by Wolf et al. on pages 143–144 of this issue. Abstract Aim To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland.
Jaakko H. Oikarainen, Oula A. Knuutinen, Salla M. Kangas, Elisa J. Rahikkala, Tytti M.‐L. Pokka, Jukka S. Moilanen, Reetta M. Hinttala, Päivi M. Vieira, Johanna M. Uusimaa, Maria H. Suo‐Palosaari   +9 more
wiley   +1 more source

The synergy between alkylating agents and ERCC1–XPF inhibitors is p53 dependent

Fundamental &Clinical Pharmacology, Volume 39, Issue 1, February 2025.
Abstract Background DNA repair plays a major role in maintaining genomic stability, thus limiting the transformation of normal cells into cancer cells. However, in cancer patients treated with DNA‐targeting drugs, DNA repair can decrease efficacy by removing the damage generated by such molecules that is needed to induce pharmacological activity ...
Gloria Ciniero, Tiago Marques Pedro, Charles Dumontet, Ahmed H. Elmenoufy, Frederick G. West, Michael Weinfeld, Francesco Gentile, Jack A. Tuszynski, Emeline Cros‐Perrial, Lars Petter Jordheim   +9 more
wiley   +1 more source

Chromatin Regulation of DNA Damage Repair and Genome Integrity in the Central Nervous System [PDF]

, 2017
With the continued extension of lifespan, aging and age-related diseases have become a major medical challenge to our society. Aging is accompanied by changes in multiple systems. Among these, the aging process in the central nervous system is critically
Pan, Ling, Penney, Jay, Tsai, Li-Huei
core   +1 more source

Genome scan reveals several loci associated with torus palatinus

Orthodontics &Craniofacial Research, Volume 28, Issue 1, Page 159-165, February 2025.
Abstract Objective Torus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP.
Myoung Keun Lee, Ahmed M. El Sergani, Noah Herrick, Rebecca M. Green, Carmencita Padilla, Carmen J. Buxó, Ross E. Long, Consuelo Valencia‐Ramirez, Claudia P. Restrepo Muñeton, Lina M. Moreno Uribe, Wasiu L. Adeyemo, Azeez Butali, Mary L. Marazita, John R. Shaffer, Seth M. Weinberg   +14 more
wiley   +1 more source

Peripheral Neuropathy in Cockayne's Syndrome [PDF]

Archives of Disease in Childhood, 1970
A detailed study has been made of a typical case of Cockayne's syndrome. An associated peripheral neuropathy has been demonstrated by slow nerve conduction velocities and by evidence of segmental demyelination on sural nerve biopsy. Cockayne's syndrome is probably a leucodystrophy.
A. Moosa, V. Dubowitz
openaire   +3 more sources

Cockayne Syndrome : A Report Of Two Siblings In A Family

Indian Journal of Dermatology, 2001
Family cases of cockayne’s syndrome are very rare. We report tow siblings in a family affected with this syndrome and highlight the significance of cutaneous features of this syndrome.
Thappa D.M, Kumar R.H, Nadrajan S, Elangovan S   +3 more
doaj  

Síndrome de Cockayne: Informe de un caso: revisión de la literatura [PDF]

, 2006
El Síndrome de Cockayne (CS) es un desorden genético con un patrón de herencia autosómico recesivo que fue descrito por primera vez en 1936 por Cockayne.
Aldape Barrios, B., Arenas Sordo, María de la Luz, Hernández Zamora, Edgar, Montoya Pérez, Luis A.   +3 more
core   +1 more source

Genome-wide search for strabismus susceptibility loci. [PDF]

, 2003
The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake, Hasebe, Satoshi, Kitada, Mizue, Matsuo, Toshihiko, Ohtsuki, Hiroshi, Sato, Masako, Yamane, Takashi   +6 more
core   +1 more source

Keep calm and reboot – how cells restart transcription after DNA damage and DNA repair

FEBS Letters, Volume 599, Issue 2, Page 275-294, January 2025.
DNA damage not only inhibits transcription but also disrupts nucleolar architecture. Upon DNA repair, it is crucial to restore RNA polymerase 1 and 2 transcription as well as nucleolar structure for cell survival. However, the mechanisms for reinstating them are complex and involve various proteins and processes that are still not fully understood ...
Lise‐Marie Donnio, Giuseppina Giglia‐Mari   +1 more
wiley   +1 more source