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Showing 1 to 12 of 44 entries
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In utero and lactational PCB exposure drives anatomic changes in the juvenile mouse bladder.

Current research in toxicology

Keil Stietz KP, Kennedy CL, Sethi S, Valenzuela A, Nunez A, Wang K, Wang Z, Wang P, Spiegelhoff A, Puschner B, Bjorling DE, Lein PJ, Campbell MC.
PMID: 34337439
Curr Res Toxicol. 2021;2:1-18. doi: 10.1016/j.crtox.2021.01.002. Epub 2021 Jan 12.

Bladder dysfunction, including incontinence, difficulty emptying the bladder, or urgency to urinate is a pervasive health and quality of life concern. However, risk factors for developing these symptoms are not completely understood, and the influence of exposure to environmental...

Corrigendum: Human Cerebral Cortex Proteome of Fragile X-Associated Tremor/Ataxia Syndrome.

Frontiers in molecular biosciences

Holm KN, Herren AW, Taylor SL, Randol JL, Kim K, Espinal G, Martínez-Cerdeño V, Pessah IN, Hagerman RJ, Hagerman PJ.
PMID: 34055898
Front Mol Biosci. 2021 May 11;8:695407. doi: 10.3389/fmolb.2021.695407. eCollection 2021.

[This corrects the article DOI: 10.3389/fmolb.2020.600840.].

RapID Cell Counter: Semi-Automated and Mid-Throughput Estimation of Cell Density within Diverse Cortical Layers.

eNeuro

Sekar A, Sanches TM, Hino K, Kumar M, Wang J, Ha E, Durbin-Johnson B, Simó S, Dennis MY.
PMID: 34725102
eNeuro. 2021 Nov 30;8(6). doi: 10.1523/ENEURO.0185-21.2021. Print 2021.

Tracking and quantifying the abundance and location of cells in the developing brain is essential in neuroscience research, enabling a greater understanding of mechanisms underlying nervous system morphogenesis. Widely used experimental methods to quantify cells labeled with fluorescent markers,...

Sex disparate gut microbiome and metabolome perturbations precede disease progression in a mouse model of Rett syndrome.

Communications biology

Neier K, Grant TE, Palmer RL, Chappell D, Hakam SM, Yasui KM, Rolston M, Settles ML, Hunter SS, Madany A, Ashwood P, Durbin-Johnson B, LaSalle JM, Yasui DH.
PMID: 34916612
Commun Biol. 2021 Dec 16;4(1):1408. doi: 10.1038/s42003-021-02915-3.

Rett syndrome (RTT) is a regressive neurodevelopmental disorder in girls, characterized by multisystem complications including gut dysbiosis and altered metabolism. While RTT is known to be caused by mutations in the X-linked gene MECP2, the intermediate molecular pathways of...

Association Between Plasma Metabolites and Psychometric Scores Among Children With Developmental Disabilities: Investigating Sex-Differences.

Frontiers in psychiatry

Sotelo-Orozco J, Abbeduto L, Hertz-Picciotto I, Slupsky CM.
PMID: 33414730
Front Psychiatry. 2020 Dec 22;11:579538. doi: 10.3389/fpsyt.2020.579538. eCollection 2020.

No abstract available.

Comparison of imputation and imputation-free methods for statistical analysis of mass spectrometry data with missing data.

Briefings in bioinformatics

Taylor S, Ponzini M, Wilson M, Kim K.
PMID: 34472591
Brief Bioinform. 2021 Sep 01; doi: 10.1093/bib/bbab353. Epub 2021 Sep 01.

Missing values are common in high-throughput mass spectrometry data. Two strategies are available to address missing values: (i) eliminate or impute the missing values and apply statistical methods that require complete data and (ii) use statistical methods that specifically...

Association Between Plasma Metabolites and Psychometric Scores Among Children With Developmental Disabilities: Investigating Sex-Differences.

Frontiers in psychiatry

Sotelo-Orozco J, Abbeduto L, Hertz-Picciotto I, Slupsky CM.
PMID: 33414730
Front Psychiatry. 2020 Dec 22;11:579538. doi: 10.3389/fpsyt.2020.579538. eCollection 2020.

No abstract available.

Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells.

Human molecular genetics

Adhikari A, Copping NA, Beegle J, Cameron DL, Deng P, O'Geen H, Segal DJ, Fink KD, Silverman JL, Anderson JS.
PMID: 33856035
Hum Mol Genet. 2021 Jun 09;30(12):1067-1083. doi: 10.1093/hmg/ddab104.

Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by impaired communication skills, ataxia, motor and balance deficits, intellectual disabilities, and seizures. The genetic cause of AS is the neuronal loss of UBE3A expression in the brain. A novel...

Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.

Journal of medical genetics

Tassanakijpanich N, McKenzie FJ, McLennan YA, Makhoul E, Tassone F, Jasoliya MJ, Romney C, Petrasic IC, Napalinga K, Buchanan CB, Hagerman P, Hagerman R, Casanova EL.
PMID: 34193467
J Med Genet. 2021 Jun 30; doi: 10.1136/jmedgenet-2020-107609. Epub 2021 Jun 30.

BACKGROUND: While an association between full mutation CGG-repeat expansions of the OBJECTIVE: To report five METHODS: We collected medical histories and RESULTS: Five cases were female and ranged between 16 and 49 years. The range of CGG-repeat allele sizes...

Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome.

Brain sciences

Dimachkie Nunnally A, Nguyen V, Anglo C, Sterling A, Edgin J, Sherman S, Berry-Kravis E, Del Hoyo Soriano L, Abbeduto L, Thurman AJ.
PMID: 34679343
Brain Sci. 2021 Sep 26;11(10). doi: 10.3390/brainsci11101278.

There is a growing body of evidence to suggest that individuals with Down syndrome (DS) are diagnosed with autism spectrum disorders (ASD) at a higher rate than individuals in the general population. Nonetheless, little is known regarding the unique...

Stable DNMT3L overexpression in SH-SY5Y neurons recreates a facet of the genome-wide Down syndrome DNA methylation signature.

Epigenetics & chromatin

Laufer BI, Gomez JA, Jianu JM, LaSalle JM.
PMID: 33750431
Epigenetics Chromatin. 2021 Mar 09;14(1):13. doi: 10.1186/s13072-021-00387-7.

BACKGROUND: Down syndrome (DS) is characterized by a genome-wide profile of differential DNA methylation that is skewed towards hypermethylation in most tissues, including brain, and includes pan-tissue differential methylation. The molecular mechanisms involve the overexpression of genes related to...

Providing a parent-administered outcome measure in a bilingual family of a father and a mother of two adolescents with ASD: brief report.

Developmental neurorehabilitation

Del Hoyo Soriano L, Bullard L, Thurman AJ, Alvarez CH, Abbeduto L.
PMID: 34170787
Dev Neurorehabil. 2021 Jun 25;1-5. doi: 10.1080/17518423.2021.1942281. Epub 2021 Jun 25.

There is a need for psychometrically sound outcome measures for treatment studies that have a low burden for families and that are available in multiple languages. We have developed a language assessment in English and Spanish that parents can...

Showing 1 to 12 of 44 entries