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In Down syndrome cells, genome-wide disruptions mimic a senescence-like state（图）
唐氏综合症 细胞生物学 全基因组 破坏模仿 衰老样状态
2023/6/6
In Down syndrome, the third copy of chromosome 21 causes a reorganization of the 3D configuration of the entire genome in a key cell type of the developing brain, a new study shows. The resulting disr...
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome
folate homocysteine mutation
2016/6/1
Down syndrome, or trisomy 21, is a complex
genetic disease resulting from the presence of 3 copies of chromosome
21. The origin of the extra chromosome is maternal in
95% of cases and is due to the...
Folate and homocysteine metabolism and gene polymorphisms in the etiology of Down syndrome
homocysteine metabolism gene polymorphisms
2016/6/1
One of the major advances in preventing malformations in the
past few decades had its origin in the observation by Smithells et
al (1) that multivitamin preparations are protective against neural
t...
Normal HR with Tilt, Yet Autonomic Dysfunction in Persons with Down Syndrome
HEART RATE AUTONOMIC FUNCTION UPRIGHT TILT DOWN SYNDROME
2017/4/14
Persons with Down syndrome (DS) exhibit altered autonomic function at rest and in response to adrenergic stimuli. It is unknown whether a subset of persons with DS that have similar HR responses to a ...
The psychosocial outcomes of adult siblings of adults with autism and Down syndrome
Outcomes Adult Siblings Autism Down Syndrome Caregiver Burden Health-Related Quality of Life Reported Benefits
2015/1/9
Little is known regarding the psychosocial outcomes of adult siblings of adults with autism. Accordingly, the current study sought to: (1) illuminate factors that predict health-related quality of lif...
Morphological Integration of Soft-Tissue Facial Morphology in Down Syndrome and Siblings
trisomy 21 craniofacial morphology
2014/11/6
Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial mor...
On the Antiquity of Trisomy 21: Moving Towards a Quantitative Diagnosis of Down Syndrome in Historic Material Culture
Down Syndrome fossils diagnosis
2014/11/6
Down syndrome was first medically described as a separate condition from other forms of cognitive impairment in 1866. Because it took so long for Down syndrome to be recognized as a clinical entity de...
Molecular Basis and Modification of a Neural Crest Deficit in a Down Syndrome Mouse Model
Down syndrome mouse models EGCG development Dyrk1a
2015/5/22
Down syndrome (DS) is the result of trisomy of human chromosome 21 (Hsa 21) and occurs in approximately 1/700 live births. Mouse models of DS have been crucial in understanding the gene-phenotype rela...
The Michael Cameron Fund, a trust fund administered by The University of Queensland, welcomed a new generation member to their board last week in order to continue supporting research into Down syndro...
A retrospective analysis of comorbid traits affecting feeding in infants with Down syndrome
Down syndrome correlation study neural crest
2015/5/22
Down syndrome (DS) is the most common aneuploidy to affect humans and occurs in approximately 1 of 750 live births. Individuals with DS present with a wide range of clinical phenotypes. Common craniof...
Developmental Differences and Altered Gene Expression in the Ts65Dn Mouse Model of Down Syndrome
development craniofacial dysmorphology mouse model Down syndrome
2015/5/22
Trisomy 21 occurs in approximately 1 out of 750 live births and causes brachycephaly, a small oral cavity, a shortened mid-face, and mental impairments in individuals with Down syndrome (DS). Craniofa...
Dental age in patients with Down syndrome
Down syndrome Age determination by teeth Tooth calcification Radiography panoramic
2009/10/19
The aim of this research was to evaluate dental age in 102 patients with Down Syndrome, using panoramic radiographs. A software program developed by the Discipline of Radiology, School of Dentistry of...
Correlation Between Down Syndrome and the Level of Placental Alkaline Phosphatase in Amniotic Fluid
PLAP(placental alkaline phosphatase) Down syndrome amniotic fluid
2009/6/22
The aim of this study was to investigate the correlation between Down syndrome and the level of placental alkaline phosphatase (PLAP) in amniotic fluid. A total of 279 amniotic fluid samples taken bet...
Prevalence of Tooth Transposition, Third Molar Agenesis, and Maxillary Canine Impaction in Individuals with Down Syndrome
Down syndrome Third molar agenesis Canine impaction Transposition
2008/12/26
Alterations in the size, morphology and number of teeth are among the many inherited disorders that have been reported in individuals with Down syndrome. By contrast, third molar agenesis and toot...
The effect of rehabilitation exercises on the gait in people with Down syndrome
Down syndrome Gait analysis Improving exercises
2010/9/16
Objective: The following question was set: Do special exercises decrease disturbances of gait in people with Down syndrome and allow for spacio-temporal parameters closer in values to the variables ac...