Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Hiroki Ura"'
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract Here, we report a novel PROS1 splicing mutation in a patient with type I protein S deficiency. Qualitative and quantitative analysis of pathogenic splicing variants at the mRNA level was performed by long-range PCR-based targeted DNA and RNA
Externí odkaz:
https://doaj.org/article/83c83de095d54daea45e2d44db4e48bd
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103388- (2024)
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-li
Externí odkaz:
https://doaj.org/article/ea5c0e8f9f1d419aacaedaa73abcc640
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract Recessive dystrophic epidermolysis bullosa is a genetic collagen disorder characterized by skin fragility that leads to generalized severe blistering, wounds, and scarring. In this report, we present a patient with a novel COL7A1 homozygous
Externí odkaz:
https://doaj.org/article/c93fc35efc6d458096f1945ed6e1da83
Autor:
Hiroki Ura, Yo Niida
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 6143 (2024)
RNA sequencing (RNA-Seq) is a powerful technique and is increasingly being used in clinical research and drug development. Currently, several RNA-Seq methods have been developed. However, the relative advantage of each method for degraded RNA and low
Externí odkaz:
https://doaj.org/article/b728ea98d49f43b29d20f8196b9e8e16
Autor:
Shintaro Matsuba, Hiroki Ura, Fumiji Saito, Chie Ogasawara, Shigetaka Shimodaira, Yo Niida, Nobuyuki Onai
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Dendritic cells (DCs) are the most potent antigen-presenting cells, playing an essential role in the pathogen and tumor recognition, and anti-tumor immunity, and linking both the innate and adaptive immunity. The monocyte-derived DCs generated by ex
Externí odkaz:
https://doaj.org/article/75d05acbf4464351ad3f4b5073b9296a
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Tuberous sclerosis complex (TSC) is a relatively common autosomal dominant disorder characterized by multiple dysplastic organ lesions and neuropsychiatric symptoms caused by loss-of-function mutation of either TSC1 or TSC2. The genetic diagnosis of
Externí odkaz:
https://doaj.org/article/47a35d9f3df74a6e84f2446463bd4eff
Publikováno v:
Stem Cell Research, Vol 70, Iss , Pp 103129- (2023)
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by neuropsychiatric symptoms and multiple dysplastic organ lesions, caused by loss of function mutations in either TSC1 or TSC2. The peripheral blood mononuclear cells (
Externí odkaz:
https://doaj.org/article/c17916ad38b74f9e98607bd49711852e
Publikováno v:
Stem Cell Research, Vol 69, Iss , Pp 103075- (2023)
Prolidase deficiency (PD) is a rare autosomal recessive disorder characterized mainly by skin lesions of the legs and feet, respiratory infections and mental retardation, and impaired immune system. To date, no effective PD treatment has been develop
Externí odkaz:
https://doaj.org/article/a5ae7fe31e114c1c8018603ff0caff8d
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract The full-length double-strand cDNA sequencing, one of the RNA-Seq methods, is a powerful method used to investigate the transcriptome status of a gene of interest, such as its transcription level and alternative splicing variants. Furthermor
Externí odkaz:
https://doaj.org/article/afbebcc1ab8d4544a109619a7c85ebdc
Publikováno v:
BMC Genomics, Vol 23, Iss 1, Pp 1-10 (2022)
Abstract Background mRNA sequencing is a powerful technique, which is used to investigate the transcriptome status of a gene of interest, such as its transcription level and splicing variants. Presently, several RNA sequencing (RNA-Seq) methods have
Externí odkaz:
https://doaj.org/article/ad1e5b71b7984e378ded64f272f4156c