Results 51 to 60 of about 48,766 (300)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons [PDF]

, 2004
Background: Activation of proto-oncogenes by DNA amplification is an important mechanism in the development and maintenance of cancer cells. Until recently, identification of the targeted genes relied on labour intensive and time consuming positional ...
De Preter, Katleen, Pattyn, Filip, Berx, Geert, Strumane, Kristin, Menten, Björn, Van Roy, Frans, De Paepe, Anne, Speleman, Franki, Vandesompele, Jo   +8 more
core   +2 more sources

Highly specific PCR-RFLP assays for karyotyping the widespread 2Rb inversion in malaria vectors of the Anopheles gambiae complex [PDF]

, 2020
Background: Chromosomal inversion polymorphisms play a role in adaptation to heterogeneous environments. Inversion polymorphisms are implicated in the very high ecological flexibility of the three main malaria vector species of the Afrotropical Anopheles
Besansky, N. J., Calzetta, M., Caputo, B., Della Torre, A., Love, R. R., Montanez-Gonzalez, R., Petrarca, V., Pichler, V., Pombi, M., Schaecher, L., Vallera, A.   +10 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Unraveling the Molecular Mechanisms Underlying Spontaneous Multipolar Mitosis Through CIN‐seq

Advanced Science, EarlyView.
Multipolar mitosis, a hallmark of chromosomal instability (CIN), drives tumor heterogeneity but is challenging to study in live cells. Using CIN‐seq, a single‐cell multiomics method, we profiled rare CIN events and identified mechanisms associated with viable multipolar mitosis, including PTEN attenuation, Rho GTPase‐driven cytokinesis failure, and ...
Pin‐Rui Su, Ting‐Chun Chou, Maria Teresa López‐Cascales, Junfeng Huang, Tsai‐Ying Chen, Sjoukje van Wieren, Chan Li, Cecile Beerens, Li You, Jelle Storteboom, Miao‐Ping Chien   +10 more
wiley   +1 more source

Interactive Karyotyping Training [PDF]

Journal of Krishna Institute of Medical Sciences University, 2013
Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities.
Ashwin Kotwaliwale
doaj  

Karyotype analysis of Lablab purpureus (L.) Sweet using fluorochrome banding and fluorescence in situ hybridisation with rDNA probes

Czech Journal of Genetics and Plant Breeding, 2015
The mitotic chromosomes of Lablab purpureus (L.) Sweet were characterised using sequential combined propidium iodide (PI) and 4',6-diamidino-2-phenylindole (DAPI) (CPD) staining and fluorescence in situ hybridisation (FISH) with 5S and 45S rDNA probes ...
Chao-Wen SHE, Xiang-Hui JIANG
doaj   +1 more source

Conformable Microelectrode Arrays Integrated with a Scoop‐Shaped Slide‐Well for Dynamic Electrophysiological Profiling of Patient‐Derived Cardiac Organoids

Advanced Science, EarlyView.
A flexible, ultrathin multi‐channel microelectrode array (MEA) conformally integrated onto a curved slide‐well enables stable electrical interfacing with 3D cardiac organoids. The geometry‐guided self‐alignment allows simultaneous recording of extracellular field potentials and contractile motion from irregular, beating tissues.
Ye Seul Kim, Jeonghwa Jeong, Gyeonghwa Heo, Young Woo Kwon, Jeongha Lee, Yoon Ji Jeong, Gyu Tae Park, Seongdo Jeong, Ki Won Hwang, Murim Choi, Jinhong Shin, Suck Won Hong, Jae Ho Kim   +12 more
wiley   +1 more source

A comprehensive resource for induced pluripotent stem cells from patients with primary tauopathies [PDF]

, 2019
Primary tauopathies are characterized neuropathologically by inclusions containing abnormal forms of the microtubule-associated protein tau (MAPT) and clinically by diverse neuropsychiatric, cognitive, and motor impairments.
Cairns, Nigel J, et al,, Ghoshal, Nupur, Hsu, Simon, Karch, Celeste M, Marsh, Jacob A, Martinez, Rita, Norton, Joanne   +7 more
core   +1 more source

Towards many colors in FISH on 3D-preserved interphase nuclei [PDF]

, 2006
The article reviews the existing methods of multicolor FISH on nuclear targets, first of all, interphase chromosomes. FISH proper and image acquisition are considered as two related components of a single process.
Albiez, H., Benecletti, P. A., Bolzer, A., Cremer, M., Cremer, T., Joffe, B., Müller, Stefan, Solovei, Irina, Speicher, Michael R., Walter, J.   +9 more
core   +1 more source