Výsledky vyhledávání - "Ignatia B Van den Veyver"

Akademický článek

Maternal stress in Shank3ex4-9 mice increases pup-directed care and alters brain white matter in male offspring.

Autor: Bibiana K Y Wong, Jaclyn B Murry, Rajesh Ramakrishnan, Fang He, Alfred Balasa, Gary R Stinnett, Steen E Pedersen, Robia G Pautler, Ignatia B Van den Veyver

Publikováno v: PLoS ONE, Vol 14, Iss 11, p e0224876 (2019)

Gene-environment interactions contribute to the risk for Autism Spectrum Disorder (ASD). Among environmental factors, prenatal exposure to stress may increase the risk for ASD. To examine if there is an interaction between exposure to maternal stress

Externí odkaz: https://doaj.org/article/c9f844e4a110406e8057fcb7eafb711d

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Akademický článek

Correction: Chronic Maternal Low-Protein Diet in Mice Affects Anxiety, Night-Time Energy Expenditure and Sleep Patterns, but Not Circadian Rhythm in Male Offspring.

Autor: Randy F Crossland, Alfred Balasa, Rajesh Ramakrishnan, Sangeetha K Mahadevan, Marta L Fiorotto, Ignatia B Van den Veyver

Publikováno v: PLoS ONE, Vol 13, Iss 7, p e0201079 (2018)

[This corrects the article DOI: 10.1371/journal.pone.0170127.].

Externí odkaz: https://doaj.org/article/41363022c8d44a8d80a02d73aafeb9ed

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Akademický článek

Chronic Maternal Low-Protein Diet in Mice Affects Anxiety, Night-Time Energy Expenditure and Sleep Patterns, but Not Circadian Rhythm in Male Offspring.

Autor: Randy F Crossland, Alfred Balasa, Rajesh Ramakrishnan, Sangeetha K Mahadevan, Marta L Fiorotto, Ignatia B Van den Veyver

Publikováno v: PLoS ONE, Vol 12, Iss 1, p e0170127 (2017)

Offspring of murine dams chronically fed a protein-restricted diet have an increased risk for metabolic and neurobehavioral disorders. Previously we showed that adult offspring, developmentally exposed to a chronic maternal low-protein (MLP) diet, ha

Externí odkaz: https://doaj.org/article/d8abca3f127a47bd8d7c07d465f9ef5d

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Akademický článek

Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).

Autor: Wei Liu, Timothy M Shaver, Alfred Balasa, M Cecilia Ljungberg, Xiaoling Wang, Shu Wen, Hoang Nguyen, Ignatia B Van den Veyver

Publikováno v: PLoS ONE, Vol 7, Iss 3, p e32331 (2012)

Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice e

Externí odkaz: https://doaj.org/article/7377aa81482e4b689d8eff457ff6ecf1

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Akademický článek

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

Publikováno v: HGG Advances, Vol 4, Iss 3, Pp 100188- (2023)

Summary: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated se

Externí odkaz: https://doaj.org/article/cb1320d2b3eb48cfacde06337026d1f0

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Akademický článek

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios

Autor: Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi

Publikováno v: Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)

Abstract We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive

Externí odkaz: https://doaj.org/article/051927d1f13244f69c11c6174e04afab

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Akademický článek

Take your mother’s ferry: preimplantation embryo development requires maternal karyopherins for nuclear transport

Autor: Momal Sharif, Laura Detti, Ignatia B. Van den Veyver

Publikováno v: The Journal of Clinical Investigation, Vol 133, Iss 2 (2023)

The genetic basis of preimplantation embryo arrest is slowly being unraveled. Recent discoveries point to maternally expressed proteins required for cellular functions before the embryonic genome is activated. In this issue of the JCI, Wang, Miyamoto

Externí odkaz: https://doaj.org/article/e7a47ffa74f547e6b1c3806dec6c52ec

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