Výsledky vyhledávání - "Claudia A Doege"

Akademický článek

DMSO increases efficiency of genome editing at two non-coding loci.

Autor: George Stratigopoulos, Maria Caterina De Rosa, Charles A LeDuc, Rudolph L Leibel, Claudia A Doege

Publikováno v: PLoS ONE, Vol 13, Iss 6, p e0198637 (2018)

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/CRISPR-associated protein-9 (Cas9) has become the tool of choice for genome editing. Despite the fact that it has evolved as a highly efficient means to edit/replace coding sequence,

Externí odkaz: https://doaj.org/article/3a00118510ac4a0bb0b82e7385a50247

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Akademický článek

Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity

Autor: Na Zhu, Charles A. LeDuc, Ilene Fennoy, Blandine Laferrère, Claudia A. Doege, Yufeng Shen, Wendy K. Chung, Rudolph L. Leibel

Publikováno v: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-6 (2023)

Abstract Bassoon (BSN) is a component of a hetero-dimeric presynaptic cytomatrix protein that orchestrates neurotransmitter release with Piccolo (PCLO) from glutamatergic neurons throughout the brain. Heterozygous missense variants in BSN have previo

Externí odkaz: https://doaj.org/article/6543f71e19a84a35b2f1e186100612b8

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Akademický článek

Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)

Understanding the genetic regulation of hypothalamic function could yield insights into disease pathogenesis, but its inaccessibility has made this challenging. Here the authors present a high-resolution chromatin atlas of a hypothalamic-like neuron

Externí odkaz: https://doaj.org/article/87b561b18c73423d8f4af95c3968229a

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Akademický článek

Variant-to-Gene-Mapping Analyses Reveal a Role for the Hypothalamus in Genetic Susceptibility to Inflammatory Bowel DiseaseSummary

Autor: Chiara Lasconi, Matthew C. Pahl, Diana L. Cousminer, Claudia A. Doege, Alessandra Chesi, Kenyaita M. Hodge, Michelle E. Leonard, Sumei Lu, Matthew E. Johnson, Chun Su, Reza K. Hammond, James A. Pippin, Natalie A. Terry, Louis R. Ghanem, Rudolph L. Leibel, Andrew D. Wells, Struan F.A. Grant

Publikováno v: Cellular and Molecular Gastroenterology and Hepatology, Vol 11, Iss 3, Pp 667-682 (2021)

Background & Aims: Inflammatory bowel disease (IBD) is a polygenic disorder characterized principally by dysregulated inflammation impacting the gastrointestinal tract. However, there also is increasing evidence for a clinical association with stress

Externí odkaz: https://doaj.org/article/5ea732da22e64125aa7a08b992a12fda

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Akademický článek

Gene expression atlas of energy balance brain regions

Autor: Maria Caterina De Rosa, Hannah J. Glover, George Stratigopoulos, Charles A. LeDuc, Qi Su, Yufeng Shen, Mark W. Sleeman, Wendy K. Chung, Rudolph L. Leibel, Judith Y. Altarejos, Claudia A. Doege

Publikováno v: JCI Insight, Vol 6, Iss 16 (2021)

Energy balance is controlled by interconnected brain regions in the hypothalamus, brainstem, cortex, and limbic system. Gene expression signatures of these regions can help elucidate the pathophysiology underlying obesity. RNA sequencing was conducte

Externí odkaz: https://doaj.org/article/ee350ea6a47341e992a1ee06fdf5670e

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Predicted loss of function alleles in Bassoon (BSN) are associated with obesity

Autor: Na Zhu, Charles A. LeDuc, Ilene Fennoy, Blandine Laferrère, Claudia A. Doege, Yufeng Shen, Wendy K. Chung, Rudolph L. Leibel

Publikováno v: medRxiv

Bassoon (BSN) is a component of a hetero-dimeric presynaptic cytomatrix protein that orchestrates neurotransmitter release with Piccolo (PCLO) from glutamatergic neurons throughout the brain. Heterozygous missense variants inBSNhave previously been a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9e8178a385ee90526123d681aab86d
https://doi.org/10.1101/2023.02.19.23285978

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Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits

Publikováno v: Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)

The hypothalamus regulates metabolic homeostasis by influencing behavior and endocrine systems. Given its role governing key traits, such as body weight and reproductive timing, understanding the genetic regulation of hypothalamic development and fun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d9343345b059b7546f74426e5b0e81c
https://doi.org/10.1530/ey.19.1.2

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Variant-to-Gene-Mapping Analyses Reveal a Role for the Hypothalamus in Genetic Susceptibility to Inflammatory Bowel Disease

Autor: Diana L. Cousminer, James A. Pippin, Kenyaita M. Hodge, Claudia A. Doege, Matthew E. Johnson, Reza K. Hammond, Michelle E. Leonard, Natalie A. Terry, Matthew C. Pahl, Rudolph L. Leibel, Struan F.A. Grant, Louis R. Ghanem, Chiara Lasconi, Alessandra Chesi, Andrew D. Wells, Sumei Lu, Chun Su

Publikováno v: Cellular and Molecular Gastroenterology and Hepatology
Cellular and Molecular Gastroenterology and Hepatology, Vol 11, Iss 3, Pp 667-682 (2021)

Background & Aims Inflammatory bowel disease (IBD) is a polygenic disorder characterized principally by dysregulated inflammation impacting the gastrointestinal tract. However, there also is increasing evidence for a clinical association with stress

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a3668c36ee2f5dc8c41707b138dee7d
https://doi.org/10.1016/j.jcmgh.2020.10.004

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