Results 151 to 160 of about 512,016 (265)

diempy: fast and reference-free genome polarization and chromosome painting. [PDF]

G3 (Bethesda)
Setter D, Lohse K, Baird SJE.
europepmc   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

A cytogenetic analysis with chromosome painting in typical antbirds (Passeriformes, Thamnophilidae) and an inference on chromosome evolution in Passeriformes. [PDF]

Chromosome Res
Ribas TFA, Nagamachi CY, Pinheiro ML, O Brien PCM, Smith MAF, Yang F, Aleixo A, Pieczarka JC.   +7 more
europepmc   +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

Specific whole-chromosome identification of the A01/C1 homoeologs through oligonucleotide-based chromosome painting in Brassica species. [PDF]

Plant J
Baez M, Mann L, Quezada-Martinez D, Ramtekey V, Heitkam T, Mason AS.   +5 more
europepmc   +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

Photoactivated Platinum Complexes: Targeting Membrane Proteins and Organelles for Precision Cancer Therapy

Angewandte Chemie, EarlyView.
This review highlights an emerging anticancer approach integrating platinum agents into photodynamic therapy (PDT) and photoactivated chemotherapy (PACT) systems, further augmented by cancer cell membrane‐ and organelle‐targeting. By directing photoactivated platinum complexes from nontargeted distribution to cancer cells or defined subcellular sites ...
Shu Chen, Qiyuan Zhou, Jiaqian Xu, Guangyu Zhu   +3 more
wiley   +2 more sources

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 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

Comparative Chromosome Painting Clarifies the Intraspecific Chromosomal Variation in Two <i>Ctenomys</i> Species (Rodentia: Ctenomyidae). [PDF]

Animals (Basel)
de Oliveira TD, Bertocchi NÁ, Pozzobon LC, Furo IO, de Oliveira EHC, Pereira JC, Ferguson-Smith MA, Kretschmer R, de Freitas TRO.   +8 more
europepmc   +1 more source