Results 31 to 40 of about 1,641 (164)

Structural and molecular characterization of paraventricular thalamic glucokinase‐expressing neuronal circuits in the mouse

Journal of Comparative Neurology, Volume 530, Issue 11, Page 1773-1949, August 2022., 2022
By using a genetically modified mouse model and viral tracing approaches, we mapped both the anterograde and the retrograde projections of a subpopulation of neurons in the anterior paraventricular thalamic nucleus, molecularly defined by the expression of glucokinase (GckaPVT).
Sevasti Gaspari, Simon Quenneville, Ana Rodriguez Sanchez‐Archidona, Bernard Thorens, Sophie Croizier   +4 more
wiley   +1 more source

Comparative transcriptome provides insights into the selection adaptation between wild and farmed foxes

Ecology and Evolution, Volume 11, Issue 19, Page 13475-13486, October 2021., 2021
The silver fox and blue fox are economically important fur species and were domesticated by humans from their wild counterparts, arctic fox and red fox, respectively, over a few centuries. Farmed foxes show obvious differences from their wild counterparts, including differences in physiology, body size, energy metabolism, and immunity.
Xiufeng Yang, Guangshuai Liu, Qi Wang, Xiaodong Gao, Tian Xia, Chao Zhao, Huashan Dou, Honghai Zhang   +7 more
wiley   +1 more source

Integrative genome‐wide analyses reveal the transcriptional aberrations in Japanese esophageal squamous cell carcinoma

Cancer Science, Volume 112, Issue 10, Page 4377-4392, October 2021., 2021
In this study, we examined what functions or which pathways have been involved in aberrations through DNA methylation status. Furthermore, we revealed allelic expression imbalance (AEI) using RNA‐seq data. Our data suggest possible involvement of AEI and aberrant expression of imprinted genes in the pathogenesis of esophageal squamous cell carcinoma ...
Akira Takemoto, Kousuke Tanimoto, Seiichi Mori, Jun Inoue, Naoto Fujiwara, Tetsuo Noda, Johji Inazawa   +6 more
wiley   +1 more source

Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia

Stem Cell Research, 2021
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy affecting the development and function of the peripheral nervous system. FD causing gene is IKBKAP, encoding IkappaB kinase complex-associated protein also named elongator complex
Lior Dor, Tatiana Rabinski, Dor Zlotnik, Michal Shilian, Miguel Weil, Gad D. Vatine   +5 more
doaj   +1 more source

Identification of known and novel familial cancer genes in Swedish colorectal cancer families

International Journal of Cancer, Volume 149, Issue 3, Page 627-634, 1 August 2021., 2021
Abstract Identifying new candidate colorectal cancer (CRC) genes and mutations are important for clinical cancer prevention as well as in cancer care. Genetic counseling is already implemented for known high‐risk variants; however, the majority of CRC are of unknown causes.
Hafdis T. Helgadottir, Jessada Thutkawkorapin, Anna Rohlin, Margareta Nordling, Kristina Lagerstedt‐Robinson, Annika Lindblom   +5 more
wiley   +1 more source

IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration. [PDF]

PLoS ONE, 2012
Familial Dysautonomia (FD; Hereditary Sensory Autonomic Neuropathy; HSAN III) manifests from a failure in development of the peripheral sensory and autonomic nervous systems. The disease results from a point mutation in the IKBKAP gene, which encodes the
Barbara J Hunnicutt, Marta Chaverra, Lynn George, Frances Lefcort   +3 more
doaj   +1 more source

MBRS-24. FUNCTIONAL CHARACTERIZATION OF IKBKAP/ELP1 AS A NOVEL SHH MEDULLOBLASTOMA PREDISPOSITION GENE [PDF]

Neuro-Oncology, 2020
Abstract Medulloblastoma (MB), a common malignant pediatric brain tumor, comprises at least four distinct molecular entities: WNT, SHH, Group 3, and Group 4. SHH-MB is driven by aberrant activation of the Sonic hedgehog (SHH) pathway in granule neuron progenitors (GNPs) and is associated with hereditary cancer predisposition syndromes ...
Lopez, Jesus Garcia, Kutscher, Lena, Kojic, Marija, Gudenas, Brian, Smith, Kyle, Hadley, Jennifer, Gajjar, Amar, Robinson, Giles W, Pfister, Stefan M, Wainwright, Brandon J, Kawauchi, Daisuke, Northcott, Paul A   +11 more
openaire   +4 more sources

A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers–Danlos and Long COVID-19 Syndromes

Current Issues in Molecular Biology, 2023
A substantial fraction of the 15% with double-jointedness or hypermobility have the traditionally ascertained joint-skeletal, cutaneous, and cardiovascular symptoms of connective tissue dysplasia and its particular manifestation as Ehlers–Danlos syndrome
Golder N. Wilson
doaj   +1 more source

Involvement of IKAP in peripheral target innervation and in specific JNK and NGF signaling in developing PNS neurons. [PDF]

PLoS ONE, 2014
A splicing mutation in the ikbkap gene causes Familial Dysautonomia (FD), affecting the IKAP protein expression levels and proper development and function of the peripheral nervous system (PNS).
Anastasia Abashidze, Veronica Gold, Yaron Anavi, Hayit Greenspan, Miguel Weil   +4 more
doaj   +1 more source

Identification of Compounds that Rescue IKBKAP Expression in Familial Dysautonomia-iPS Cells [PDF]

Nature Biotechnology, 2012
Patient-specific induced pluripotent stem cells (iPSCs) represent a novel system for modeling human genetic disease and could develop into a key drug discovery platform. We recently reported disease-specific phenotypes in iPSCs from familial dysautonomia (FD) patients. FD is a rare but fatal genetic disorder affecting neural crest lineages.
Lee, Gabsang, Ramirez, Christina N., Kim, Hyesoo, Zeltner, Nadja, Liu, Becky, Radu, Constantin, Bhinder, Bhavneet, Kim, Yong Jun, Choi, InYoung, Mukherjee-Clavin, Bipasha, Djaballah, Hakim, Studer, Lorenz   +11 more
openaire   +3 more sources