Results 31 to 40 of about 76,750 (219)

mSphere of Influence: Considering Complex Mutational Processes That Shape Microbial Virulence

mSphere, 2019
Matt Anderson works in the field of genetics and infectious disease, with a focus on the human fungal pathogen Candida albicans. In this mSphere of Influence article, he reflects on how two papers, “Gene Flow Contributes to Diversification of the Major ...
Matthew Zack Anderson
doaj   +1 more source

Chromosomal aberrations as etiological factors of intrauterine growth retardation [PDF]

Vojnosanitetski Pregled, 2008
Background/Aim. Intrauterine growth retardation (IUGR) is a pathological condition of pregnancy characterised by birth weight below the 10th centile. A number of fetal, placental and maternal causes can lead to IUGR; although, in most cases no specific ...
Petrović Bojana, Ljubić Aleksandar, Nikolić Ljubinka   +2 more
doaj   +1 more source

Genetic counseling for trisomy X syndrome diagnosed by amniocentesis: a case report [PDF]

, 2020
[Introduction] Trisomy X is a sex chromosome abnormality that occurs in approximately 1 in 1,000 female births. We provided genetic counseling to a pregnant woman and her husband following the prenatal diagnosis of trisomy X by amniocentesis. [Case] A 27-
Miura, Kiyonori, Tomonaga, Chiharu, Hasegawa, Yuri, Nagata, Ai, Miyata, Mikako, Miura, Shoko, Shigetomi, Noriko   +6 more
core  

Role of 3-Mercaptopyruvate Sulfurtransferase in the Regulation of Proliferation and Cellular Bioenergetics in Human Down Syndrome Fibroblasts

Biomolecules, 2020
Down syndrome (trisomy of human chromosome 21) is a common genetic disorder. Overproduction of the gaseous mediator hydrogen sulfide (H2S) has been implicated in the pathogenesis of neurological and metabolic deficits associated with Down syndrome ...
Theodora Panagaki, Elisa B. Randi, Csaba Szabo   +2 more
doaj   +1 more source

Molecular Glue Degraders Enhance CAPRIN1‐Dependent Lysosomal Degradation of APP and Reduce Amyloid β in Alzheimer's Disease

Advanced Science, EarlyView.
A new class of lysosome‐directed molecular glue degraders selectively enhance CAPRIN1–APP interactions, driving APP degradation and reducing amyloid‐β production in human neurons and Alzheimer's disease mouse models. This CAPRIN1‐dependent targeted protein degradation strategy reveals a previously unrecognized therapeutic approach for disrupting the ...
Sunghan Jung, Xu Wang, Bin Liu, Raktim Roy, Nancy Jaiswal, Ratan K. Rai, Yuichiro Takagi, Cen Gao, Lifan Zeng, Ho‐Yin Lo, Reagan K. Wohlford, Ryan K. Higgins, Bruce T. Lamb, Anantha Shekhar, Anita C. Bellail, Chunhai Hao   +15 more
wiley   +1 more source

Chromosomal in situ suppression hybridization of immunologically classified mitotic cells in hematologic malignancies [PDF]

, 1992
Chromosomal in situ suppression (CISS) hybridization was performed with library DNA from sorted human chromosomes 8, 9, 15, 17, 21, and 22 on immunologically stained bone marrow cells of four patients with a hematologic neoplasm, including two patients ...
Knuutila, Sakari, Jotterand Bellomo, Martine, Marianne Tiainen, Tiainen, Marianne, Sakari Knuutila, Tapani Ruutu, Emmerich, Patricia, Cremer, Thomas, Susanne Popp, Martine Jotterand Bellomo, Ruutu, Tapani, Parlier, Valerie, Patricia Emmerich, Popp, Susanne, Thomas Cremer, Valerie Parlier   +15 more
core   +1 more source

A Spatiotemporal Single‐Cell Atlas Uncovers Dysregulated ECM Dynamics and Septal Remodeling Arrest in Human Ventricular Septal Defects

Advanced Science, EarlyView.
Integrating single‐cell and spatial transcriptomics reveals human ventricular septal defect (VSD) as a disease of microenvironmental insufficiency and structural remodeling arrest. Attenuated endothelial‐fibroblast crosstalk, alongside downregulated THBS1/TGF‐β1 and MMP2 signaling networks, impairs the endothelial‐to‐mesenchymal transition (EndoMT) and
Xiaoyuan Zhang, Lun Zhu, Ze Sun, Ruolin Jia, Ziming Wang, Jiayao Zhao, Bohao Liu, Haiqing Xiong, Xiaowei Yu, Yanzhu Yue   +9 more
wiley   +1 more source

Testicular cancer in Down syndrome with spinal cord metastases

Urology Annals, 2016
A 22-year-old male patient with Down syndrome was referred to our hospital with a vast left testicular mass. He underwent a left radical inguinal orchiectomy, and a histopathological examination of the mass showed a yolk sac tumor invading the epididymis.
Turky Almouhissen, Hattan Badr, Bassam AlMatrafi, Noor Alessa, Anmar Nassir   +4 more
doaj   +1 more source

Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH)

, 2017
Trisomy 12p syndrome is a rare chromosomal abnormality, which presents with facial dysmorphism, moderate to severe psychomotor retardation and generalized hypotonia.
Hung, Chia-Cheng;Lin, Chia-Hui;Lin, Shin-Yu;Shin, Jin-Chung;Lee, Chien-Nan;Su, Yi-Ning, 林芯?;蘇怡寧;李建南;林佳慧   +1 more
core   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source