Results 201 to 210 of about 1,497,962 (254)

Viral Chromosome Conformation Capture (V3C) Assays for Identifying Trans-interaction Sites between Lytic Viruses and the Cellular Genome. [PDF]

Bio Protoc, 2019
Majumder K, Boftsi M, Pintel DJ.
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos, Natasha Monte, Kaio Evandro Cardoso Aguiar, Rita de Cássia Calderaro, Aline Pasquini Santos, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐Dos‐Santos, Sandro José De Souza, Ândrea Ribeiro‐Dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista Dos Santos, Ney Pereira Carneiro Dos Santos   +11 more
wiley   +1 more source

3CDB: a manually curated database of chromosome conformation capture data. [PDF]

Database (Oxford), 2016
Yun X, Xia L, Tang B, Zhang H, Li F, Zhang Z.   +5 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Prophage Activation Triggers Extracellular Synthesis of DNA in Bacterial Biofilms via Rolling Circle Replication

Angewandte Chemie, EarlyView.
Shewanella oneidensis and Bacillus subtilis, both harboring prophages, reveal a novel biosynthetic route to scalable and programmable DNA superstructures in flower‐ and wire‐like shapes, respectively. Activation of prophages is achieved via 3‐hour starvation and monitored using reporter strains.
Gabriel Antonio S. Minero, Line Mørkholt Lund, Lasse Hyldgaard Klausen, Obinna Markraphael Ajunwa, Mingdong Dong, Rikke Louise Meyer, Victoria Birkedal, Kai Thormann   +7 more
wiley   +2 more sources

5C-ID: Increased resolution Chromosome-Conformation-Capture-Carbon-Copy with in situ 3C and double alternating primer design. [PDF]

Methods, 2018
Kim JH, Titus KR, Gong W, Beagan JA, Cao Z, Phillips-Cremins JE.   +5 more
europepmc   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Broad‐Spectrum, Cell Envelope‐Active Marinocyclin Antibiotics From a Coral‐Derived Bacterium Are Effective Against Colistin‐Resistant Bacteria

Angewandte Chemie, EarlyView.
Marinocyclins, polycationic macrocyclic depsipeptides, were discovered by genome mining from the marine coral‐derived bacterium Aquimarina megaterium. The compounds have broad‐spectrum activity against gram‐positive and gram‐negative ESKAPE bacteria.
Clara Chepkirui, Sandra Silva, Jan Straetener, Chandrashekhar Padhi, Tina Keller‐Costa, Tess Lamer, Laura Reinke, Heike Brötz‐Oesterhelt, Rodrigo Costa, Jörn Piel   +9 more
wiley   +2 more sources