Results 121 to 130 of about 122,769 (286)

Genomic Profiling in Localized Prostate Cancer: Associations With Biochemical Recurrence and Response to Salvage Radiotherapy

Cancer Science, EarlyView.
Early screening for somatic alterations in localized prostate cancer could help predict biochemical recurrence risk and optimize salvage therapy selection. ABSTRACT The clinical significance of comprehensive genomic profiling (CGP) has been established in metastatic castration‐resistant prostate cancer (PC).
Kenji Zennami, Tetsuya Takimoto, Takuhisa Nukaya, Makoto Sumitomo, Mayu Takeda, Eiji Sugihara, Hideyuki Saya, Ryoichi Shiroki   +7 more
wiley   +1 more source

unc-80 LoF Mutant Drug Repurposing/Confirmation Screening v1 [PDF]

, 2023
Thomas O’Brien
openalex   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

Clinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç, Linda C. Zuurbier, Merel C. van Maarle, Peter Lauffer, Jonathan I. M. L. Verbeke, Caroline J. Bax, Minke van Tuyl, Ron Hochstenbach, Eva Pajkrt   +8 more
wiley   +1 more source

Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort

JCI Insight
Loss-of-function (LoF) variants in the filaggrin (FLG) gene are the strongest known genetic risk factor for atopic dermatitis (AD), but the impact of these variants on AD outcomes is poorly understood.
Samuel J. Virolainen, Latha Satish, Jocelyn M. Biagini, Hassan Chaib, Wan Chi Chang, Phillip J. Dexheimer, Michael R. Dixon, Katelyn Dunn, David Fletcher, Carmy Forney, Marissa Granitto, Matthew S. Hestand, Makenna Hurd, Kenneth Kauffman, Lucinda Lawson, Lisa J. Martin, Loren D.M. Peña, Kieran J. Phelan, Molly Shook, Matthew T. Weirauch, Gurjit K. Khurana Hershey, Leah C. Kottyan   +21 more
doaj   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Martin-Lof identity types in the C-systems defined by a universe category [PDF]

, 2015
Vladimir Voevodsky
openalex   +1 more source

Supplementary Figure 5 from Maximizing the Efficacy of MAPK-Targeted Treatment in <i>PTEN</i>^LOF<i>/BRAF</i>^MUT Melanoma through PI3K and IGF1R Inhibition

, 2023
Barbara Herkert, Audrey Kauffmann, Sandra Mollé, Christian Schnell, Thomas Ferrat, Hans Voshol, Janina Juengert, Hélène Erasimus, Grégory Marszalek, Malika Kazic-Legueux, Éric Billy, David A. Ruddy, Mark Stump, Daniel Guthy, Mitko Ristov, Keith Calkins, Sauveur-Michel Maira, William R. Sellers, Francesco Hofmann, Michael N. Hall, Saskia M. Brachmann   +20 more
openalex   +1 more source

Quantitative analysis of DNA‐GATA1 binding alterations linked to hematopoietic disorders

The FEBS Journal, EarlyView.
Native holdup allows the quantitative determination of affinities between full‐length transcription factors and DNA. Mutations in either the protein or the DNA can modulate binding strength, which can be precisely quantified using this approach. Applied to GATA1, it revealed mutations that alter DNA binding.
Boglarka Zambo, Bastien Morlet, Luc Negroni, Orsolya Mózner, Balázs Sarkadi, Gilles Travé, Gergo Gogl   +6 more
wiley   +1 more source

Computational Investigation on the Combined Effect of Applied Strain and Pore Configuration on Strain Concentrators in Additively Manufactured Metals

Fatigue &Fracture of Engineering Materials &Structures, EarlyView.
ABSTRACT Metal additive manufacturing (AM) provides a pathway for creating highly optimized components that would be difficult to produce using traditional manufacturing methods. However, regardless of printing parameters or postprocessing, porosity remains a prevalent challenge in AM components because strain concentrates in the vicinity of the pore ...
Erick Adan Ramirez, Saikumar Reddy Yeratapally, George Robert Weber, Kenji Shimada   +3 more
wiley   +1 more source

Lignite-derived organic fertiliser enhanced the carbon sequestration capacity of woody plant by improving soil quality and promoting plant growth

Plant, Soil and Environment
As essential natural carbon sinks, woody plants play a key role in urban ecological restoration. The lignite-derived organic fertiliser (LOF) may promote plant growth and carbon sequestration by improving soil properties.
Qianru Wu, Ruofan Bu, Taotao Wang, Bei Zhang, Kylan Jin, Liang Chen   +5 more
doaj   +1 more source