Results 21 to 30 of about 5,499,417 (372)

Molecular Genetics of Holoprosencephaly [PDF]

Fetal and Pediatric Pathology, 2000
Holoprosencephaly (HPE) is a common developmental defect of the human forebrain and midface. Pathological studies have identified different categories of severity of the brain and craniofacial malformations observed in HPE, although the variable clinical spectrum of HPE extends in unbroken sequence from alobar HPE and cyclopia to clinically unaffected ...
Robert L. Schelper, Luisa Nanni, Maximilian Muenke   +2 more
openaire   +4 more sources

Elevated expression of histone deacetylase HDAC8 suppresses arginine-proline metabolism in necrotizing enterocolitis

iScience, 2023
Summary: Epigenetic alterations are especially important in necrotizing enterocolitis (NEC). Here, we reported that histone deacetylase 8 (HDAC8) plays a previously unknown role in modulating arginine metabolism via acetylation of histone 3 lysine 9 ...
Ting Guo, Shaohua Hu, Weijue Xu, Jin Zhou, Feng Chen, Tingting Gao, Wenqian Qu, Faling Chen, Zhibao Lv, Li Lu   +9 more
doaj   +1 more source

Per-nucleus crossover covariation is regulated by chromosome organization

iScience, 2022
Summary: Meiotic crossover (CO) recombination between homologous chromosomes regulates chromosome segregation and promotes genetic diversity. Human females have different CO patterns than males, and some of these features contribute to the high frequency
Cunxian Fan, Xiao Yang, Hui Nie, Shunxin Wang, Liangran Zhang   +4 more
doaj   +1 more source

Rhamnolipids produced by Pseudomonas: from molecular genetics to the market

Microbial Biotechnology, 2020
Rhamnolipids are biosurfactants with a wide range of industrial applications that entered into the market a decade ago. They are naturally produced by Pseudomonas aeruginosa and some Burkholderia species. Occasionally, some strains of different bacterial
G. Soberón-Chávez, Abigail González-Valdez, M. P. Soto-Aceves, M. Cocotl-Yañez   +3 more
semanticscholar   +1 more source

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Genetics in Medicine, 2015
Disclaimer: These ACMG Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory services.
Sue Richards, Nazneen Aziz, S. Bale, D. Bick, Soma Das, J. Gastier-Foster, W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, H. Rehm   +11 more
semanticscholar   +1 more source

Pompe disease: pathogenesis, molecular genetics and diagnosis

Aging, 2020
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA gene have been reported.
S. Taverna, G. Cammarata, P. Colomba, S. Sciarrino, C. Zizzo, Daniele Francofonte, M. Zora, Simone Scalia, C. Brando, Alessia Lo Curto, E. M. Marsana, Roberta Olivieri, S. Vitale, G. Duro   +13 more
semanticscholar   +1 more source

ROS Regulate Caspase-Dependent Cell Delamination without Apoptosis in the Drosophila Pupal Notum

iScience, 2020
Summary: Thorax fusion occurs in the midline of the Drosophila pupal notum and involves epithelial cell delamination requiring apoptotic signaling. By genetic screening, we found that NADPH oxidases (Nox and Duox) associated with superoxide anion (O˙-2 ...
Yuya Fujisawa, Natsuki Shinoda, Takahiro Chihara, Masayuki Miura   +3 more
doaj   +1 more source

Developmental imaging genetics: challenges and promises for translational research [PDF]

, 2006
Advances in molecular biology, neuroimaging, genetic epidemiology, and developmental psychopathology have provided a unique opportunity to explore the interplay of genes, brain, and behavior within a translational research framework.
Hariri, A.R., Viding, E., Williamson, D.E.   +2 more
core   +1 more source

Molecular Genetics in Neuroblastoma Prognosis

Children, 2021
In recent years, much research has been carried out to identify the biological and genetic characteristics of the neuroblastoma (NB) tumor in order to precisely define the prognostic subgroups for improving treatment stratification.
Margherita Lerone, Marzia Ognibene, Annalisa Pezzolo, Giuseppe Martucciello, Federico Zara, Martina Morini, Katia Mazzocco   +6 more
doaj   +1 more source

The molecular basis of T cell acute lymphoblastic leukemia [PDF]

, 2012
T cell acute lymphoblastic leukemias (T-ALLs) arise from the malignant transformation of hematopoietic progenitors primed toward T cell development, as result of a multistep oncogenic process involving constitutive activation of NOTCH signaling and ...
Adolfo Ferrando, Bash, Bash, Chen, Condorelli, Dube, Fisch, Hagemeijer, Hebert, Ho, Kelliher, Kikuchi, Larson, Lu, McGuire, McGuire, Nagel, Ntziachristos, Ntziachristos, Ono, Pieter Van Vlierberghe, Royer-Pokora, Rubnitz, van Grotel   +23 more
core   +1 more source