Results 101 to 110 of about 944,231 (329)
npj Genomic MedicineSomatic mosaicism produces genetic differences between cells in an individual and is an underrecognized contributor to phenotypic variability. Precise understanding of the natural history of genetic diseases, therefore, requires detection and recognition
Alexandra C. Keefe +24 more
doaj +1 more source
On the clinical picture and diagnosis of rare neurological diseases [PDF]
Саратовский научно-медицинский журнал, 2018 The article presents clinical observation of patient H, 2007 year of birth., with X-linked adrenoleukodystrophy (X-ALD). This is a rare hereditary metabolic disease, not only in Russia but also worldwide.
Ulyanova O.V. +2 more
doaj
Assisted reproductive technologies and legal aspects of sex selection
Андрология и генитальная хирургия, 2019 The paper covers the legal and ethical aspects of sex selection, and the dynamics of public opinion on this issue in different countries and regions of the world. Also, the results of two questionnaires, organized by Research Centre for Medical Genetics (
S. Sh. Khayat +2 more
doaj +1 more source
Laboratory colonisation and genetic bottlenecks in the tsetse fly Glossina pallidipes [PDF]
, 2014 Background The IAEA colony is the only one available for mass rearing of Glossina pallidipes, a vector of human and animal African trypanosomiasis in eastern Africa. This colony is the source for Sterile Insect Technique (SIT) programs in East Africa.
Ciosi, Marc +2 more
core +3 more sources
Molecular Oncology, EarlyView.This study investigated how PYCR1 inhibition in bone marrow stromal cells (BMSCs) indirectly affects multiple myeloma (MM) cell metabolism and viability. Culturing MM cells in conditioned medium from PYCR1‐silenced BMSCs impaired oxidative phosphorylation and increased sensitivity to bortezomib.
Inge Oudaert +13 more
wiley +1 more source
The Cone Dysfunction Syndromes [PDF]
, 2016 The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly stationary retinal disorders characterised by reduced central vision, and varying degrees of colour vision abnormalities, nystagmus and photophobia.
Aboshiha, J +4 more
core
A synthetic benzoxazine dimer derivative targets c‐Myc to inhibit colorectal cancer progression
Molecular Oncology, EarlyView.Benzoxazine dimer derivatives bind to the bHLH‐LZ region of c‐Myc, disrupting c‐Myc/MAX complexes, which are evaluated from SAR analysis. This increases ubiquitination and reduces cellular c‐Myc. Impairing DNA repair mechanisms is shown through proteomic analysis.
Nicharat Sriratanasak +8 more
wiley +1 more source
Reticulate Pigmentary Disorders: a review
Pigment International, 2019 Reticulate pigmentary disorders include presentations with “net-like,” “sieve-like,” or “chicken wire” configuration of the skin lesions. Various congenital and acquired dermatoses, as well as few systemic diseases, are present with this pattern of skin ...
Surabhi Sinha, Anita Kulhari
doaj +1 more source
X-linked mental retardation and epigenetics
Journal of Cellular and Molecular Medicine, 2006 The search for the genetic defects in constitutional diseases has so far been restricted to direct methods for the identification of genetic mutations in the patients’ genome.
G. Froyen +3 more
semanticscholar +1 more source
Molecular Oncology, EarlyView.Adaptaquin selectively kills glioma stem cells while sparing differentiated brain cells. Transcriptomic and proteomic analyses show Adaptaquin disrupts iron and cholesterol homeostasis, with iron chelation amplifying cytotoxicity via cholesterol depletion, mitochondrial dysfunction, and elevated reactive oxygen species.
Adrien M. Vaquié +16 more
wiley +1 more source