[PDF] Top 20 The developmental genetics of Hirschsprung's disease
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The developmental genetics of Hirschsprung's disease
... in the male genital ridge where it functions as the key genetic switch for sex determination in mammals ...was the first SOX gene identified (47), and conferred its name to the family (SOX: ... Voir le document complet
14
Male-biased aganglionic megacolon in the TashT mouse model of Hirschsprung disease involves upregulation of p53 protein activity and Ddx3y gene expression
... images of male ...levels of p53 are identified by white ...analysis of ENCCs with high levels of p53 protein using images such as those displayed in ...E. The total number of ... Voir le document complet
39
Susceptibility of brain atrophy to TRIB3 in Alzheimer’s disease, evidence from functional prioritization in imaging genetics
... by the Alzheimer's Disease Neuroimaging Initiative (ADNI) (National Institutes of Health Grant U01 AG024904) and DOD ADNI (Department of Defense award number ...by the National ... Voir le document complet
29
The molecular genetics of Marfan syndrome and related disorders.
... about the molecular mechanisms in MFS to develop a model that would explain the sequence of events leading from a mutation in FBN1 to clinical ...how the sequence of pathogenetic events ... Voir le document complet
24
Network regularization in imaging genetics improves prediction performances and model interpretability on Alzheimers's disease
... at the optimum solution as discussed in [5]. Model fitting The problem does not have an analytical so- lution and is non-convex, but it is multi-convex in the sense that the loss function −f ... Voir le document complet
5
Revolution of Resting-State Functional Neuroimaging Genetics in Alzheimer’s Disease
... nodes of the DMN compared with ...because of decreased [60] as well as increased DMN connectivity [62] results. The heterogeneity of evidence in presymptomatic adults might indicate ... Voir le document complet
31
Systems Genetics of Hepatic Metabolome Reveals Octopamine as a Target for Non-Alcoholic Fatty Liver Disease Treatment
... mapping of body weight and adiposity index identifies diet specific genetic control independent of ...0.001). The two QTLs on chromosomes 6 and 11 in CHD-fed mice explain a high proportion of ... Voir le document complet
11
Update on the genetics of spastic paraplegias
... forms of HSP: SPG1 and SPG2. The cell surface glycoprotein L1-CAM, which is mutated in SPG1, plays a crucial role in the migration and differentiation of ...with developmental ... Voir le document complet
55
Gut microbiota-mediated Gene-Environment interaction in the TashT mouse model of Hirschsprung disease
... to the most distal innervated segment but instead seems to propagate over the whole colon ...that the increased proportion of nitrergic neurons in the mid-DC appears to be accompanied ... Voir le document complet
14
The developmental transcriptome atlas of the biofuel crop Camelina sativa
... 2014a). The second objective, which is the focus of this paper, was to generate an integrated overview of gene expression dynamics during development of ...to the genome sequence ... Voir le document complet
17
The chosen genes : Jews, genetics, and the future of ethnic medicine
... "For instance, scientists have discovered that a genetic mutation that increases the risk for Alzheimer disease occurs at significantly different frequencies among et[r] ... Voir le document complet
60
The developmental polarity and morphogenesis of a single cell
... between the interior and the exterior, and their shape must be such as to withstand the ...in the average car tire; moreover, it is vital as it provides much of the mechanical ... Voir le document complet
308
Response: Commentary: The Developmental Trajectory of the Operational Momentum Effect
... that the attentional shift account and the heuristic account provide equivalent .... the use of heuristics is generally increased when attention is decreased” ( McCrink and Hubbard, 2017 , ... Voir le document complet
4
IDDF2019-ABS-0184 Role of adherent-invasive E. coli in inflammatory bowel disease – epidemiology, genetics and therapeutics
... BOWEL DISEASE – EPIDEMIOLOGY, GENETICS AND THERAPEUTICS 1 Zhilu Xu*, 1 Keli Yang, 1 Jingwan Zhang, 1 Tao Zuo, 2 Caroline Chevarin, 1 Lok Cheung Chu, 1 Francis Chan, 1 Joseph Sung, 1 Jun Yu, 2 Nicolas ... Voir le document complet
1
Translating the genetics of cystic fibrosis to personalized medicine
... to the development of personalized treatment across specific subgroups of CF ...by the cytochrome P450 family 3, subfamily A (CYP3A) and early in its development, Kalydeco ® and metabolites ... Voir le document complet
24
Autism throughout genetics: Perusal of the implication of ion channels
... understanding the emotions of others, hyper or hypo- reactivity, focused interests, and stereotyped repetitive ...Because the clinical mani- festation of autism may differ significantly among ... Voir le document complet
19
Genetics of amyotrophic lateral sclerosis
... impairments of frontotemporal functions, 350 and about half of FTD patients eventually develop motor neuron ...members of ALS patients have an increased risk to develop either FTD or Parkinson’s ... Voir le document complet
201
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
... studies of patients who have a specific gene variants are needed to facilitate the recognition of the phenotypic spectrum of that specific genetic DEE ...on the long arm ... Voir le document complet
21
View of The Genetics of Leber’s Hereditary Optic Neuropathy: A Literature Review
... degeneration of the RGCs and eventual cell death via apoptosis ...However, the majority of the proposed mechanisms have been established through mitochondrial cybrid cell ...model ... Voir le document complet
5
Basics on cyanobacterial genetics
... heterogeneity of colonies or filaments in natural samples or even in cultivated strains is masked and averaged during DNA ...characterize the ITS genotypes of Microcystis individuals within a bloom ... Voir le document complet
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