Results 161 to 170 of about 12,073,927 (302)

Intragenic <i>TTN</i> Deletions in a Single Family with Dilated Cardiomyopathy. [PDF]

Appl Clin Genet
Wayhelova M, Peldova P, Krebsova A, Nemcikova M, Sojka M, Macek M.   +5 more
europepmc   +1 more source

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity. [PDF]

Exp Dermatol, 2022
Vermeer MCSC, Andrei D, Kramer D, Nijenhuis AM, Hoedemaekers YM, Westers H, Jongbloed JDH, Pas HH, van den Berg MP, Silljé HHW, van der Meer P, Bolling MC.   +11 more
europepmc   +1 more source

APOBEC3 activity and DNA polymerase‐ε deficiency are associated with distinct IDH1 R132 hotspot mutations

Molecular Oncology, EarlyView.
Isocitrate dehydrogenase 1 (IDH1) mutations are highly recurrent in multiple human cancer types, including cholangiocarcinoma and glioma. IDH1 R132C is the most common IDH1 mutation in cholangiocarcinoma and likely arises from APOBEC3A‐ or APOBEC3B‐mediated deamination.
Kelly E. Butler, Bilal A. Lone, Ecem Unal, A. Rouf Banday   +3 more
wiley   +1 more source

Mitigation of Airborne Contaminant Spread through Simple Interventions in an Occupied Single-Family Home. [PDF]

Int J Environ Res Public Health, 2021
Khan TR, Parker DS, Withers C.
europepmc   +1 more source

Maguire Family Scrapbook, 1911-1929

, 1911
Scrapbook pages, with loose items from scrapbook.Pages from the scrapbook of the Maguire family of Richmond, VA.  The front cover of the scrapbook is missing and the first existing page of the scrapbook is numbered 97; the location of the cover and the ...

core  

p190A/ARHGAP35 and p190B/ARHGAP5 proteins in endometrial cancer: a novel cancer‐relevant paralog interplay

Molecular Oncology, EarlyView.
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault, Capucine Heraud, Mélissa Correia de Oliveira, Véronique Neaud, Valérie Valesco, Valérie Prouzet‐Mauleon, Béatrice Turcq, Jean‐William Dupuy, Anne‐Aurélie Raymond, Sabrina Croce, Frédéric Saltel, Valérie Lagrée, Violaine Moreau   +12 more
wiley   +1 more source

Impact of Single-Family Room Care on Neonatal Outcomes: A Systematic Review. [PDF]

Cureus
El-Atawi K, Alallah J, Al Qurashi M, Saleh M.   +3 more
europepmc   +1 more source

Improving the Energy Flexibility of Single-Family Homes through Adjustments to Envelope and Heat Pump Parameters. [PDF]

J Build Eng, 2021
Feldhofer M, Healy WM.
europepmc   +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

Effect of Shifting From Open Bay to Single-Family Rooms on Closeness in a NICU. [PDF]

Acta Paediatr
Wielenga JM, Pascual A, Ruhe K, Aarnoudse C, van Kaam AH.   +4 more
europepmc   +1 more source