Results 111 to 120 of about 53,969 (208)

Síndrome de Ataxia-Telangiectasia Ataxia-telangiectasia: a case report

Arquivos de Neuro-Psiquiatria, 1971
A ataxia-telangiectasia, doença de Mme. Louis-Bar, é caracterizada pela associação de ataxia cerebelar progressiva, em geral com início na primeira infância, telangiectasas óculo-cutâneas, movimentos coreoatetósicos, tendência a infecções repetidas do ...
Amauri Batista da Silva, Aílton Antonio de Moraes, J. E. Gonçalves de Medeiros, F. Almir Pires, E. Zerlotti Filho   +4 more
doaj  

Integrated Population Pharmacokinetic, Pharmacodynamic, and Safety Analyses to Inform Dosage Selection in the Clinical Development of the ATR Inhibitor Tuvusertib

Clinical Pharmacology &Therapeutics, Volume 119, Issue 3, Page 618-628, March 2026.
We present model‐informed selection of the recommended dose for expansion (RDE) of investigational oral ATR inhibitor tuvusertib, by integrating clinical pharmacokinetics (PK), pharmacodynamics (PD), and safety data from DDRiver Solid Tumors 301 trial Part A1 (NCT04170153).
Jatinder Kaur Mukker, Paul Matthias Diderichsen, Farina Hellmann, Timothy A. Yap, Ruth Plummer, Anthony W. Tolcher, Johann S. de Bono, Ioannis Gounaris, Zoltan Szucs, Astrid Zimmermann, Irina Kareva, Jayaprakasam Bolleddula, Annick Seithel‐Keuth, Giuseppe Locatelli, Marta Enderlin, Christine Hicking, Anup Zutshi, Wei Gao, Rainer Strotmann, Lisa Benincosa, Karthik Venkatakrishnan   +20 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Mre11 assembles linear DNA fragments into DNA damage signaling complexes.

PLoS Biology, 2004
Mre11/Rad50/Nbs1 complex (MRN) is essential to suppress the generation of double-strand breaks (DSBs) during DNA replication. MRN also plays a role in the response to DSBs created by DNA damage.
Vincenzo Costanzo, Tanya Paull, Max Gottesman, Jean Gautier   +3 more
doaj   +1 more source

BMI and Breast Subcutaneous Fat

Journal of Ultrasound in Medicine, Volume 45, Issue 3, Page 599-610, March 2026.
Objectives Obesity is closely associated with the occurrence and progression of breast cancer. While body mass index (BMI) is widely used to diagnose obesity, it has certain limitations. Subcutaneous fat thickness (SFT) also serves as an indicator of body composition. However, studies on breast SFT are scarce.
Shiyu Wang, Jin Zhou, Yunxia Huang, Dongdong Zheng, Ruoqing Hou, Shichong Zhou   +5 more
wiley   +1 more source

Autophagy in DNA Damage Response [PDF]

, 2015
DNA damage response (DDR) involves DNA repair, cell cycle regulation and apoptosis, but autophagy is also suggested to play a role in DDR. Autophagy can be activated in response to DNA-damaging agents, but the exact mechanism underlying this activation ...
Elzbieta Pawlowska, Janusz Blasiak, Jolanta Bialkowska-Warzecha, Kai Kaarniranta, Piotr Czarny   +4 more
core   +2 more sources

Aging‐Derived Alterations in Genomic, Immune, and Metabolic Networks: Implications for Cancer Development and Therapy

MedComm – Oncology, Volume 5, Issue 1, March 2026.
Ageing acts as a double‐edged sword in cancer. In the elderly, open chromatin, immunosenescence, and chronic inflammation drive SASP (IL‐6, MMPs), MDSC accumulation and T‐cell suppression, fostering tumor‐promoting microenvironments and limited therapeutic benefit.
Qi Wang, Xue Sun, Xinhao Han, Xingda Zhang, Wenzheng Wang, Hongbin Wang, He Ren, Lina Gu   +7 more
wiley   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Incidence and Outcome of Infants With Cancer in Canada: A Report From Cancer in Young People in Canada Database

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Purpose Infants with cancer are rare and face unique challenges. Our study aims to describe the incidence of infantile cancers in Canada and to compare treatment‐related mortality (TRM) and their outcomes with those of older children. Methods We conducted a retrospective cohort study using the Cancer in Young People in Canada database ...
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Sylvia Cheng, Lesleigh Abbott, Tony Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Donna L. Johnston, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +22 more
wiley   +1 more source

Overexpression of CDT1 inhibits cell cycle progression at S phase by interacting with the mini‐chromosome maintenance complex and causes DNA damage

FEBS Open Bio, Volume 16, Issue 2, Page 352-364, February 2026.
CDT1 is an essential protein for DNA replication licensing that loads the MCM complex, the eukaryotic replicative DNA helicase, onto replication origins. Overexpression of CDT1 induces cell cycle arrest at the S phase. Here we showed CDT1 inhibits the progression of replication forks by interacting with the MCM complex, leading to the stalling and ...
Takashi Tsuyama, Nonoka Takayama, Rina Tanaka, Yuuki Arai, Yohko Yamaguchi, Yuko Nawata, Yutaro Azuma, Shusuke Tada   +7 more
wiley   +1 more source