Results 41 to 50 of about 12,622 (181)

Higher rank sheaves on threefolds and functional equations

, 2019
We consider the moduli space of stable torsion free sheaves of any rank on a smooth projective threefold. The singularity set of a torsion free sheaf is the locus where the sheaf is not locally free. On a threefold it has dimension $\leq 1$.
Gholampour, Amin, Kool, Martijn
core   +1 more source

Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization.

PLoS ONE, 2019
Glycosaminoglycans in the skin interstitium and endothelial surface layer have been shown to be involved in local sodium accumulation without commensurate water retention. Dysfunction of heparan sulfate glycosaminoglycans may therefore disrupt sodium and
Rik H G Olde Engberink, Judith de Vos, Angela van Weert, Yahua Zhang, Naomi van Vlies, Bert-Jan H van den Born, Jens M Titze, Ed van Bavel, Liffert Vogt   +8 more
doaj   +1 more source

The Ising model and Special Geometries

, 2014
We show that the globally nilpotent G-operators corresponding to the factors of the linear differential operators annihilating the multifold integrals $\chi^{(n)}$ of the magnetic susceptibility of the Ising model ($n \le 6$) are homomorphic to their ...
André Y ed Adolphson A, Bogner M, Bostan A, Bostan A, Bostan A, Bostan A, Boukraa S, Boukraa S, Boukraa S, Boukraa S, Boukraa S, Broadhurst D, Delves R T, Dettweiler M, Guttmann A J, Guttmann A J, J-M Maillard, Katz N M, Koutschan C, Nickel B, S Boukraa, S Hassani, van Hoeij M, Zenine N, Zenine N, Zenine N, Zenine N   +26 more
core   +3 more sources

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]

Scientific Reports, 2013
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of ...
P. Sarrión, A.Sangorrin, R. Urreizti, A. Delgado, R. Artuch, L. Martorell, J. Armstrong, J, Anton, F.Torner, M.A. Villaseca, J.Nevado, P.Lapunzina, C.G. Asteggiano, S. Balcells, D. Grinberg   +14 more
openaire   +9 more sources

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family

Medicina, 2022
Background and Objectives: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones.
Muhammad Ajmal, Hafsah Muhammad, Muhammad Nasir, Muhammad Shoaib, Salman Akbar Malik, Irfan Ullah   +5 more
doaj   +1 more source

An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

Frontiers in Endocrinology, 2022
BackgroundDespite the new next-generation sequencing (NGS) molecular approaches implemented the genetic testing in clinical diagnosis, copy number variation (CNV) detection from NGS data remains difficult mainly in the absence of bioinformatics personnel
Serena Corsini, Elena Pedrini, Claudio Patavino, Maria Gnoli, Marcella Lanza, Luca Sangiorgi   +5 more
doaj   +1 more source

EXT2 promotes sarcoma progression and immune evasion via the AKT/c-Myc/PD-L1 axis: a multi-omics and validation study

Journal of Translational Medicine
Background Sarcomas are a heterogeneous group of mesenchymal malignancies with diverse histological subtypes, limited treatment options, and generally poor outcomes in advanced disease. EXT2, a glycosyltransferase involved in heparan sulfate biosynthesis,
Haotian Qin, Tiantian Qi, Nan Yao, Weibei Sheng, Jinhao Deng, Junyu Qian, Deli Wang, Hui Zeng, Juan Xu, Jian Weng, Fei Yu, Jun Yang   +11 more
doaj   +1 more source

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

Clinical Case Reports, 2019
Key Clinical Message We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2
Aditi Gupta, Sarah A. Ewing, Deborah L. Renaud, Linda Hasadsri, Kimiyo M. Raymond, Eric W. Klee, Ralitza H. Gavrilova   +6 more
doaj   +1 more source

Moduli spaces of framed perverse instantons on P^3

, 2010
We study moduli spaces of framed perverse instantons on P^3. As an open subset it contains the (set-theoretical) moduli space of framed instantons studied by I. Frenkel and M. Jardim.
ADRIAN LANGER, Atiyah, Grothendieck, Happel, Huybrechts, Le Potier, MARCIN HAUZER, Motzkin, Nakajima, O'Grady, Okonek, Schmitt, Sorger   +12 more
core   +1 more source

Understanding bidirectional and transactional relations in parent and offspring mental health: Using COVID‐19 pandemic data to gain insights

JCPP Advances, EarlyView.
This study found that parent internalising symptoms predicted internalising symptoms in younger children, with no evidence of child‐driven effects. Among adolescents, mental health symptoms showed bidirectional associations with parent internalising symptoms, particularly for externalising symptoms.
Martha Oakes, Lowrie Hilladakis, Polly Waite, Cathy Creswell, Simona Skripkauskaite   +4 more
wiley   +1 more source