Results 91 to 100 of about 4,352,139 (301)

The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey

Orphanet Journal of Rare Diseases
Background Angelman syndrome (AS) is a rare neurogenetic disorder characterized by persistent cognitive and functional impairments that necessitate lifelong care.
John Jarvis, Elizabeth Chertavian, Marric Buessing, Taylor Renteria, Lufei Tu, Lauren Hoffer, Ryan Fischer, Amanda Moore, Meagan Cross, Megan Tones   +9 more
doaj   +1 more source

Gender, socio-economic status and metabolic syndrome in middle-aged and old adults. [PDF]

, 2008
BACKGROUND: Studies that addressed social and economic determinants of cardiovascular diseases, consistently showed an increase prevalence of the individual features of metabolic syndrome in the lower socio-economic strata.
Barros, Henrique, Henrique Barros, Santos, Ana C, Ana C Santos, Shah Ebrahim, Ebrahim, Shah, Santos Ana C, Barros Henrique, Ebrahim Shah   +8 more
core   +2 more sources

Mechanisms and therapeutic opportunities of the ribotoxic stress response in cancer

Molecular Oncology, EarlyView.
Cancer cells' high translational demand creates opportunities to therapeutically target ribosome function. Ribosome stalling and collisions activate ZAKα and the ribotoxic stress response (RSR), which can trigger rapid, p53‐independent apoptosis in cancer.
Anastassiya Kim, Maryam Aslam, Elouise Torruella, Alphons Sony, Asif Rahman, Simira Smith, Columba de la Parra, Moira Sauane   +7 more
wiley   +1 more source

An integrated multi-omic natural history study of human development, sexual dimorphism, and the effects of trisomy 21

Nature Communications
Human development involves multiple signaling pathways acting concertedly in an age- and sex-specific fashion. Trisomy 21, the genetic cause of Down syndrome, dysregulates human development leading to both early neurodevelopmental delays and atypical ...
Neetha Paul Eduthan, Micah G. Donovan, Paula Araya, Angela L. Rachubinski, Kelly D. Sullivan, Matthew D. Galbraith, Joaquin M. Espinosa   +6 more
doaj   +1 more source

The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer

Molecular Oncology, EarlyView.
Mutations, environmental stress, and chaperone dysfunction can destabilize pVHL, promoting its conversion from the native folded state into amyloid‐like assemblies. This transition may contribute to protein storage, cell dormancy, survival, and drug resistance.
Lara Abad, Silvio Carlo Ermanno Tosatto, Emanuela Leonardi   +2 more
wiley   +1 more source

Reflections on the Quality of Life of Adults with Down Syndrome from an International Congress

Disabilities
People with Down Syndrome often experience more barriers to achieving a good quality of life compared to people without disabilities. A lot of the existing research has focused on the views of parents and professionals, rather than directly including the
Rachel Spencer, Robin Gibson, Leigh Creighton, Catherine Watson, Roy McConkey   +4 more
doaj   +1 more source

Unique circulating miRNAome signatures captured with distinct molecular states in Lynch syndrome and sporadic colorectal cancer

Molecular Oncology, EarlyView.
Circulating microRNA profiles distinguish nonmalignant Lynch syndrome from cancer‐associated Lynch syndrome, sporadic colorectal cancer, and healthy controls. Age‐stratified analysis reveals disease‐specific regulatory states, and a six‐miRNA panel shows concordant separation in an independent colorectal tissue cohort.
Ramadhani Salum Chambuso, Md Shohel Ul Islam, Rosa M Xicola, Raj Ramesar, Xavier Llor, Sinclair Steele   +5 more
wiley   +1 more source

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height [PDF]

, 2011
The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes.
Tatton-Brown, Katrina, Hanks, Sandra, Temple, I. Karen, Ruark, Elise, et al., Cole, Trevor, Douglas, Jenny, Loveday, C, Patton, Michael, Ruark, E, Murray, A, Ramsay, Emma, Seal, Sheila, Ramsay, E, Taylor, C, Zachariou, A, Temple, KI, Loveday, Chey, Tatton-Brown, K, Patton, M, Duarte, SDELV, Seal, S, Douglas, J, Raith, W, Clericuzio, Carol, Magee, A, Flinter, F, ?, ?, Splitt, Miranda, Banka, S, Rahman, N, Strenger, V, Flinter, Frances, Rankin, Julia, Snape, Katie, Zachariou, Anna, Temple, Karen I, Murray, Anne, Splitt, M, Wheeler, P, Magee, Alex, Childhood Overgrowth Collaboration, Strenger, Volker, Perdeaux, Elizabeth R, McConnell, Vivienne, Banka, Siddharth, Clericuzio, C, Wheeler, Patricia, McConnell, V, Perdeaux, ER, Cole, T, Taylor, Clare, Snape, K, Raith, Wolfgang, Rahman, Nazneen, Duarte, Silvana Del Vecchio, Hanks, S, Rankin, J   +57 more
core   +1 more source

SPHINX31 acts as a SRPK1 inhibitor targeting the ATR/DNA‐PKcs/CHK1 replicative checkpoint to inhibit cell growth in non‐small cell lung cancer

Molecular Oncology, EarlyView.
The kinase SRPK1 directly interacts with the protein TOPBP1 and regulates the pre‐mRNA splicing of WIZ thereby contributing to the activation of the ATR/CHK1 replicative checkpoint in response to replicative stress. This allows cancer cells' genomic stability and survival.
Amani Shreim, Aurelie Genoux, Nadiia Zubchuk, Haoyang Zheng, Perla Salameh, Theo Ziegelmeyer, Fabien Dalonneau, Margot Rouchette, Christiane Oddou, Simona Miron, Helene Polveche, Adiilah Mamode Cassim, Carmen Garrido, Eleni Nikolakaki, Didier Auboeuf, Tao Jia, Sophie Zinn‐Justin, Beatrice Eymin   +17 more
wiley   +1 more source

Oculocerebral hypopigmentation syndrome (Cross syndrome)

The Turkish Journal of Pediatrics, 1991
A typical case of Cross syndrome with hypopigmentation, mental and psychomotor retardation, spasticity, bilateral optic atrophy and dental defects in a three-year-old boy is presented. The clinical features of this rare syndrome are discussed.
ÖZKAN, HASAN, UNSAL, E, KOSE, G
openaire   +4 more sources