Results 131 to 140 of about 8,625,025 (271)

Anhidrotic ectodermal dysplasia: a case report in a Nigerian child and literature review

open access: yesNigerian Journal of Paediatrics
This report of Hereditary anhidrotic ectodermal dysplasia (HAED), a genetic disorder characterized by abnormalities of structures of ectodermal origin, was informed by its rarity, and its import for survival in a tropical environment.
Johnson A-W BR   +4 more
doaj  

Clarinet Rarities (Theodore Schoen, Clarinet and Bass Clarinet) Program (2006-03-23)

open access: yes, 2006
University of Minnesota Duluth. Department of Music. (2006). Clarinet Rarities (Theodore Schoen, Clarinet and Bass Clarinet) Program (2006-03-23).
University of Minnesota Duluth. Department of Music
core  

Homologació de rareses ornitològiques a Balears. Informe de 2001 [PDF]

open access: yes, 2001
Onzè informe anual que presenta el Comitè de Rareses Ornitològiques del GOB. S'han homologat 7 registres, corresponents a les següents espècies, sel·la marbrenca Marmaronetta angustirostris, esmerla Falco columbarius, llambritja becvermell Sterna caspia,
López-Jurado, Carlos
core  

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

open access: yesMolecular 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   +3 more
wiley   +1 more source

Bridging the gap: a genetically validated avian chorioallantoic membrane platform for investigation of spontaneous circulating tumor cells

open access: yesMolecular Oncology, EarlyView.
We established the avian chorioallantoic membrane (CAM) assay as a scalable in vivo model for studying circulating tumor cells (CTCs). Human gastrointestinal tumors spontaneously released genetically validated CTCs that were detected across multiple platforms, demonstrating that the CAM model provides an accessible tool for investigating early cancer ...
Dennis Roth   +17 more
wiley   +1 more source

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

open access: yesMolecular 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   +5 more
wiley   +1 more source

3-D rarities a collection of 22 ultra-rare and stunningly restored 3-D films

open access: yes, 2015
"It has taken over 30 years for the 3-D Film Archive to assemble and restore the material in 3-D Rarities, an eye-popping collection of ultra-rare and long-lost movies, which Flicker Alley and the 3-D Film Archive are proud to present...

core  

Spatial heterogeneity of hotspot mutations and clonal relatedness in ovarian endometrioid carcinoma

open access: yesMolecular Oncology, EarlyView.
Spatially resolved analysis revealed heterogeneous distributions of selected cancer‐associated mutations within ovarian endometrioid carcinomas. Shared mutations between paired endometrial and ovarian tumors supported clonal relatedness. These findings highlight the value of sampling multiple tumor regions when interpreting molecular profiles ...
Takahito Ashihara   +10 more
wiley   +1 more source

Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes

open access: yesFEBS Open Bio, EarlyView.
Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard   +12 more
wiley   +1 more source

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

open access: yesFEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill   +6 more
wiley   +1 more source

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