Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage [PDF]
, 2018 Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before ...
Bernardini, Laura +12 more
core +2 more sources
A new karyotype of Calomys (Rodentia, Sigmodontinae)
Iheringia: Série Zoologia, 2001 The genus Calomys Waterhouse, 1837 is widely distributed within South America, being found in Venezuela, Colombia, Peru, Bolivia, Brazil, Paraguay, Uruguay and Argentina. Specimens of Calomys were collected in Formoso do Araguaia, Tocantins, Brazil.
Lima J. Fernando de S., Kasahara Sanae
doaj
Turner syndrome in childhood period – A case Report
Rwanda Medical Journal, 2022 INTRODUCTION: Turner syndrome is a frequent chromosome disorder characterized by short stature, gonadal dysgenesis and multisystem diseases associated with high morbidity and reduced life expectancy CASE: We reviewed an 18 month old patient who ...
B. Tuyishimire +5 more
doaj +1 more source
High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells. [PDF]
, 2017 Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and cardiomyocytes.
Arias, Angelo +12 more
core +2 more sources
Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]
, 1996 Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan +14 more
core +1 more source
Securin Is Not Required for Chromosomal Stability in Human Cells [PDF]
, 2005 Abnormalities of chromosome number are frequently observed in cancers. The mechanisms regulating chromosome segregation in human cells are therefore of great interest.
Azofeifa +32 more
core +4 more sources
A Rare Case with 49,XXXXY Syndrome
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2012 BACKGROUND AND OBJECTIVE: Chromosomal abnormalities are one of the causes of sexual ambiguity and in male genders the most common causes of genital ambiguity in chromosomal abnormalities’ category is Klinefelter syndrome and its rare 49,XXXXY syndrome ...
M Alijanpour,, A Hadipoor, M Taghavi
doaj
Contribution to the knowledge of the family Otoplanidae Hallez, 1892 (Rhabditophora, Proseriata) in the Mediterranean [PDF]
, 2009 A growing awareness is rising that present perception of marine biodiversity is inadequate, and based upon unrepresentative data. The inadequacy of knowledge on taxonomy and distribution of marine organisms is particularly acute for interstitial ...
Delogu, Valentina
core
Genetic Normalization of Differentiating Aneuploid Human Embryos [PDF]
, 2011 Early embryogenesis involves a series of dynamic processes, many of which are currently not well described or understood. Aneuploidy and aneuploid mosaicism, a mixture of aneuploid and euploid cells within one embryo, in early embryonic development are ...
Andrew Barker +8 more
core +1 more source
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7 [PDF]
, 2018 CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (CNV),
Altieri, Filomena +13 more
core +1 more source