Results 51 to 60 of about 49,281 (297)
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 +11 more
wiley +1 more source
Multicolor chromosome bar codes [PDF]
, 2006 Chromosome bar codes are multicolor banding patterns produced by fluorescence in situ hybridization (FISH) with differentially labeled and pooled sub-regional DNA probes.
Müller, Stefan, Wienberg, Johannes
core +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 +10 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 +8 more
core +2 more sources
Advanced Science, EarlyView.Oligonucleotide‐based fluorescence in situ hybridization probes were developed in the model citrus species Citrus maxima. These probes were applied to comparative karyotyping across 14 species in the Rutaceae family. This analysis revealed chromosomal evolution in lineages that diverged from Citrus nearly 52 million years ago.
Li He +9 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
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
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 +7 more
core +1 more source
Gross karyotypic and phenotypic alterations among different progenies of the candida glabrata cbs138/atcc2001 reference strain [PDF]
, 2012 Peer reviewedPublisher ...
Bader, Oliver +8 more
core +4 more sources
Pneumocystis carinii karyotypes [PDF]
Journal of Clinical Microbiology, 1990 Pulsed-field gel electrophoresis techniques were used to examine the chromosomes of Pneumocystis carinii isolated from laboratory rats and two human subjects. P. carinii organisms isolated from each of four rat colonies and from two patients each produced a distinct band pattern, but in all cases the bands ranged in size from 300 to 700 kilobase pairs.
S T, Hong +5 more
openaire +2 more sources