Results 51 to 60 of about 12,622 (181)

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2) [PDF]

European Journal of Medical Genetics, 2019
We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole exome sequencing performed in one of the boys revealed the presence of a novel homozygous missense variant in the EXT2 gene: c.11C > T (p.Ser4Leu ...
El-Bazzal, Lara, Atkinson, Alexandre, Gillart, Anne-Celine, Obeid, Marc, Delague, Valérie, Mégarbané, André   +5 more
openaire   +3 more sources

La unión de Candida albicans y Malassezia spp. a células de piel promueve cambios de expresión en los genes responsables de la síntesis de las cadenas de heparán y condroitín sulfato

Actas Dermo-Sifiliográficas, 2022
Resumen: Las micosis superficiales son patologías prevalentes en dermatología, causadas frecuentemente por hongos oportunistas de los géneros Candida y Malassezia.
H. Ordiales, F. Vázquez-López, M. Pevida, B. Vázquez-Losada, F. Vázquez, L.M. Quirós, C. Martín   +6 more
doaj   +1 more source

Integrative Genomic Profiling of Pediatric Solid Tumors Reveals Clinically Relevant Variants and Chromosomal Arm Aneuploidies Signatures

Cancer Medicine, Volume 15, Issue 3, March 2026.
ABSTRACT Background Pediatric malignancies have emerged as the leading cause of disease‐related mortality in children, exhibiting distinct etiological and molecular characteristics compared to adult cancers. Despite advances in genomic profiling, the molecular landscape of pediatric solid tumors, particularly in Chinese populations, remains ...
Bingxiao Yan, Jinhu Wang, Jieni Xiong, Shuangai Liu, Yinbing Tang, Ziqi He, Hujin Yan, Bize Guo, Chen Chen, Yijie Zhang, Qinfang Zhu, Jiabin Cai, Min He, Xuan Wu, Junqing Mao, Lifeng Zhang, Weizhong Gu, Zhu Zhu, Zheming Li, Rui Xiao, Qiang Shu, Gang Yu, Ting Tao   +22 more
wiley   +1 more source

[Translated article] Adherence of Candida albicans and Malassezia Species to Skin Cells Induces Changes in the Expression of Genes Responsible for Heparan and Chondroitin Sulfate Chain Synthesis

Actas Dermo-Sifiliográficas, 2022
Superficial fungal infections are common in dermatology and are often caused by opportunistic species in the Candida and Malassezia genera. The aim of this study was to analyze changes in the expression of genes coding for enzymes involved in the ...
H. Ordiales, F. Vázquez-López, M. Pevida, B. Vázquez-Losada, F. Vázquez, L.M. Quirós, C. Martín   +6 more
doaj   +1 more source

Genus zero Gopakumar-Vafa type invariants for Calabi-Yau 4-folds

, 2018
In analogy with the Gopakumar-Vafa conjecture on CY 3-folds, Klemm and Pandharipande defined GV type invariants on Calabi-Yau 4-folds using Gromov-Witten theory and conjectured their integrality. In this paper, we propose a sheaf-theoretic interpretation
Cao, Yalong, Maulik, Davesh, Toda, Yukinobu   +2 more
core   +1 more source

The Tap‐to‐Safety Task: A Novel fMRI Paradigm Assessing Repetitive Threat‐Neutralization

Human Brain Mapping, Volume 47, Issue 3, 15 February 2026.
In this study, we present a novel task to model repetitive threat‐neutralization behavior during neuroimaging. Results suggest that the dorsal anterior cingulate cortex (dACC), anterior insula, and dorsal striatum interact to drive neutralization behavior in the face of perceived threats.
Hannah Berg, Riley Rozniarek, Aardron Robinson, Rayus Kuplicki, Annette Rostel, Nate Mungunkhet, Ryan Smith, H. Blair Simpson, Martin P. Paulus, Robin L. Aupperle   +9 more
wiley   +1 more source

The Large Quasar Reference Frame (LQRF) - an optical representation of the ICRS

, 2009
The large number and all-sky distribution of quasars from different surveys, along with their presence in large, deep astrometric catalogs,enables the building of an optical materialization of the ICRS following its defining principles.
A. H. Andrei, Adelman-McCarthy, Andrei, Arias, Arias, Assafin, Assafin, C. Barache, D. N. da Silva Neto, da Silva Neto, da Silva Neto, F. Taris, Feissel, Fey, Fienga, Fienga, Hoeg, Hoeg, J. I. B. Camargo, J. L. Penna, J. Souchay, Lasker, M. Assafin, Ma, Monet, N. Zacharias, Perryman, Petrov, Pier, R. L. Smart, R. Vieira Martins, S. Bouquillon, Schwan, Souchay, Souchay, Taff, Taff, Véron-Cetty, Zacharias, Zacharias   +39 more
core   +3 more sources

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

A more general method to classify up to equivariant KK-equivalence [PDF]

, 2015
Using a homological invariant together with an obstruction class in a certain Ext^2-group, we may classify objects in triangulated categories that have projective resolutions of length two.
Bentmann, Rasmus, Meyer, Ralf
core  

Multiple Hereditary Exostoses: Report of an EXT2 Gene Mutation in a Colombian Family [PDF]

Journal of Pediatric Genetics, 2018
AbstractMultiple hereditary exostoses (MHE) is a rare disease with autosomal dominant inheritance, caused by heterozygous germline mutations in the EXT1 or EXT2 genes. This disorder is characterized by the growth of prominences surrounded by cartilage in the growth plates and the long bones. Here, we report a family affected by MHE.
Jhon, Camacho, Luz Dary, Gutierrez, Cladelis, Rubio, Alfonso, Suárez, Angie, Amaya   +4 more
openaire   +2 more sources