Results 151 to 160 of about 128,823 (315)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Layer-by-layer decoding of contemporary and historic painting composition using MALDI mass spectrometry imaging and machine learning. [PDF]

Sci Adv
Krupička V, Grélard F, Blanc L, Popowich A, Lazarte Luna JL, Desbenoit N, Arslanoglu J, Tokarski C.   +7 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Biochromatic potential of Pseudomonas aeruginosa from grapes: molecular profiling, antimicrobial action and eco-friendly dye applications. [PDF]

Sci Rep
Kour S, Dutta U, Mahajan T, Sheikh ZN, Al-Khayri JM, Al-Dossary O, Alsubaie B, Aldaej MI.   +7 more
europepmc   +1 more source

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source

A histochemical assay for polyphenolic profiling in cereal grains. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Mursalimov SR, Shoeva OY.
europepmc   +1 more source

Predominance of Ferroptotic Cell Death Mechanisms in Substantia Nigra Neurodegeneration in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective The extent of neuronal loss in Parkinson's disease (PD) and the pathogenic processes underlying neuronal dysfunction and loss remain poorly understood. Here, we analyzed the expression of key molecules representing different cell death signaling pathways and their association with Lewy pathology, dopaminergic (DA) neuron loss and stage of PD ...
Yue Jing Heng, Anusha Jayaraman, Richard Reynolds, Jia Nee Foo   +3 more
wiley   +1 more source

Structural and Chemical Degradation of Archeological Wood: Synchrotron XRD and FTIR Analysis of a 26th Dynasty Egyptian Polychrome Wood Statuette. [PDF]

Polymers (Basel)
Atwa DM, Hussein RK, Mohamed IF, Ibrahim S, Abdullah E, Omar G, Ibrahim MA, Refaat A.   +7 more
europepmc   +1 more source

Structure and occurence of chlorophylls [PDF]

, 1991
Scheer, Hugo, Scheer, Hugo
core   +1 more source

Compositional Characterization, Quality Parameters, and Physicochemical and Bioactive Properties of Pequi (Caryocar brasiliense) Oils From Xingu and Cerrado in Mato Grosso, Brazil

Journal of the American Oil Chemists' Society, EarlyView.
Cerrado oil is richer in MUFA and antioxidant compounds, while Xingu oil shows higher SFA and enhanced oxidative stability, reinforcing the potential of pequi oil as a sustainable bioactive ingredient. ABSTRACT Pequi (Caryocar brasiliense) is a native fruit widely distributed in Brazilian biomes, specially in Cerrado, known for its high oil yield and ...
Dhayna O. Sobral, Patrícia T. Souza, Gabriel S. L. Pereira, Sara Fraga, Maria E. O. Carvalho, Antonio J. A. Meirelles, Eduardo A. C. Batista, Klicia A. Sampaio, Guilherme J. Maximo   +8 more
wiley   +1 more source