Results 81 to 90 of about 99,459 (305)

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling [PDF]

, 2007
Large brain size is one of the defining characteristics of modern humans. Seckel syndrome (MIM 210600), a disorder of markedly reduced brain and body size, is associated with defective ATR-dependent DNA damage signaling.
A Kramer, A Purohit, Anand Saggar, Andrew P Jackson, Ben Hamel, Bertrand Vernay, C Ponting, Carol-Anne Martin, CG Woods, D Chen, D Diviani, Elen Griffith, F Majewski, F Ruschendorf, GK Alderton, GK Alderton, H Dodson, H Loffler, H Niida, HPG Seckel, J Bond, J Bond, JB Dictenberg, K Miyoshi, M Martinez-Campos, M O'Driscoll, Mark O'Driscoll, MR Flory, Nouriya Al Sanna, P Brown, Paola Vagnarelli, Penny A Jeggo, Q Li, RD Martin, S Doxsey, S Sengupta, S Zhang, Sarah Walker, SJ Doxsey, Tom Stiff, WC Zimmerman, William C Earnshaw, Y Shiloh   +42 more
core   +4 more sources

Late-Onset Ovarian Bleeding After Transvaginal Oocyte Retrieval in a Patient With Suspected Hereditary Hemorrhagic Telangiectasia [PDF]

, 2023
Kohei Tamura, Hironori Takahashi, Tatsuya Suzuki, Mai Ohhashi, Hiroyuki Fujiwara   +4 more
openalex   +1 more source

Poly(ADP-Ribosyl)ation affects stabilization of CHE-1 protein in response to DNA damage [PDF]

, 2011
Post-translation modifications play a crucial role in coordinating the cellular response to DNA damage. Double strand DNA breaks (DSBs) trigger the activation of ATM and Chk2 kinases, which represent the primary transducers in the signalling cascade ...
BACALINI, MARIA GIULIA
core  

Genomic stability in response to high versus low linear energy transfer radiation in Arabidopsis thaliana. [PDF]

, 2014
Low linear energy transfer (LET) gamma rays and high LET HZE (high atomic weight, high energy) particles act as powerful mutagens in both plants and animals.
Britt, Anne B, Conklin, Phillip A, Friesner, Joanna D, Huefner, Neil D, Yoshiyama, Kaoru   +4 more
core   +1 more source

CREST Syndrome in Systemic Sclerosis Patients – Is Dystrophic Calcinosis a Key Element to a Positive Diagnosis?

Journal of Inflammation Research, 2022
Carmen Bobeica,1,* Elena Niculet,1,2 Mihaela Craescu,1 Elena-Laura Parapiru,3,* Carmina Liana Musat,1,* Ciprian Dinu,4,* Iulia Chiscop,5,* Luiza Nechita,3,* Mihaela Debita,6,* Victorita Stefanescu,6,* Ioana Anca Stefanopol,
Bobeica C, Niculet E, Craescu M, Parapiru EL, Musat CL, Dinu C, Chiscop I, Nechita L, Debita M, Stefanescu V, Stefanopol IA, Nechifor A, Pelin AM, Balan G, Chirobocea S, Vasile CI, Tatu AL   +16 more
doaj  

Potential neuroprotective and therapeutic agents and their mechanisms for irradiation‐induced brain injury

Ibrain, EarlyView.
In this review, agents such baicalein, troxerutin, epigallocatechin gallate, quercetin, melatonin, valproic acid, lithium, neurosteroid progesterone, as well as minocycline have been implicated as neuroprotective agents for irradiation‐induced neurological deficits. Also, agents such as glucocorticoids, methylphenidate, vitamin E, bisdemethoxycurcumin,
Seidu A. Richard, Vivian Kapio Abem, Sagor Kumar Roy   +2 more
wiley   +1 more source

Microscopic Inner Retinal Hyper-reflective Phenotypes in Retinal and Neurologic Disease [PDF]

, 2014
Purpose. We surveyed inner retinal microscopic features in retinal and neurologic disease using a reflectance confocal adaptive optics scanning light ophthalmoscope (AOSLO). Methods. Inner retinal images from 101 subjects affected by one of 38 retinal or
Carroll, Joseph, Cooper, Robert F., Dubis, Adam M., Dubra, Alfredo, Higgins, Brian P., Kim, Judy E., Scoles, Drew, Stepien, Kimberly E., Summerfelt, Phyllis, Weinberg, David V.   +9 more
core   +2 more sources

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension [PDF]

, 2012
Pulmonary arterial hypertension (PAH) is an incurable disorder clinically characterised by a sustained elevation of mean arterial pressure in the absence of systemic involvement.
Machado, Rajiv
core   +2 more sources

Impact of organic pollutants on phenotype and gene expression in human breast cancer cells

Journal of Applied Toxicology, EarlyView.
ABSTRACT Human exposure to industrial chemical compounds is widespread and, although often beneficial, prolonged contact may contribute to disease development, including cancer. While many studies have shown organic pollutants (OP) are cytotoxic, few have explored how long‐term exposure alters cell phenotype.
Camila Confortin, Heloisa Amancio, Jessica Zablocki da Luz, Aliciane de Almeida Roque, Tugstênio Lima de Souza, José Eduardo Vargas, Ciro Alberto de Oliveira Ribeiro, Francisco Filipak Neto   +7 more
wiley   +1 more source