Zobrazeno 1 - 10
of 467
pro vyhledávání: '"Maki Fukami"'
Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Autor:
Tatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, Kaori Hara-Isono, Akie Nakamura, Sayaka Kawashima, Hiromune Narusawa, Rika Kosaki, Yutaka Nishimura, Kazuki Yamazawa, Tetsuo Hattori, Yukako Muramatsu, Takanobu Inoue, Keiko Matsubara, Maki Fukami, Shinji Saitoh, Tsutomu Ogata, Masayo Kagami
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background Multi-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in approximately 150 cases with imprinting disorders (IDs), and deleterious varian
Externí odkaz:
https://doaj.org/article/6b5bfe603f204369b891655890db9f4d
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 29, Iss 3, Pp 156-160 (2024)
Recent advances in long-read next-generation sequencing (NGS) have enabled researchers to identify several pathogenic variants overlooked by short-read NGS, array-based comparative genomic hybridization, and other conventional methods. Long-read NGS
Externí odkaz:
https://doaj.org/article/8b2aa530dd864ed68afa8ba58951e984
Autor:
Eleni Z. Giannopoulou, Stephanie Brandt, Stefanie Zorn, Christian Denzer, Julia von Schnurbein, Maki Fukami, Alexander Kaiser, Martin Schmidt, Martin Wabitsch
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionAromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced aromatization of androgens and estrogen excess. In males it is characterized by pre-/peripubertal gynecomastia, hypogonadotropic hypogonadi
Externí odkaz:
https://doaj.org/article/c6c6bf26e3ef4b56a3c5ca972976d5e2
Autor:
Erina Suzuki, Kazuhiko Nakabayashi, Saki Aoto, Tsutomu Ogata, Yoko Kuroki, Mami Miyado, Maki Fukami, Keiko Matsubara
Publikováno v:
Heliyon, Vol 10, Iss 18, Pp e37648- (2024)
Although some Mendelian neurodevelopmental disorders have been shown to entail specific DNA methylation changes designated as epi-signatures, it remains unknown whether epi-signatures are consistent features of other genetic disorders. Here, we analy
Externí odkaz:
https://doaj.org/article/ad0b1bbb734847cfa264d580b7b0f06f
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract Biallelic IGFALS variants lead to acid‒labile subunit (ALS) deficiency characterized by growth hormone resistance with or without delayed puberty. Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth
Externí odkaz:
https://doaj.org/article/e3ea706333054b0d843a826af12fab5a
Autor:
Atsushi Hattori, Atsuhito Seki, Naoto Inaba, Kazuhiko Nakabayashi, Kazue Takeda, Kuniko Tatsusmi, Yasuhiro Naiki, Akie Nakamura, Keisuke Ishiwata, Kenji Matsumoto, Michiyo Nasu, Kohji Okamura, Toshimi Michigami, Yuko Katoh-Fukui, Akihiro Umezawa, Tsutomu Ogata, Masayo Kagami, Maki Fukami
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract All attempts to identify male-specific growth genes in humans have failed. This study aimed to clarify why men are taller than women. Microarray-based transcriptome analysis of the cartilage tissues of four adults and chondrocytes of 12 chil
Externí odkaz:
https://doaj.org/article/3019d22edd4d4c8dbe4a7506cd74d8be
Autor:
Kaori Hara-Isono, Keiko Matsubara, Akie Nakamura, Shinichiro Sano, Takanobu Inoue, Sayaka Kawashima, Tomoko Fuke, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
Publikováno v:
Clinical Epigenetics, Vol 15, Iss 1, Pp 1-11 (2023)
Abstract Background Our previous study suggested that assisted reproductive technology (ART) may be a possible risk factor for the development of epimutation-mediated imprinting disorders (epi-IDs) for mothers aged ≥ 30 years. However, whether ART
Externí odkaz:
https://doaj.org/article/275e16ae7540475282e1ab546e79f968
Autor:
Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, Noriyuki Azuma, Yuichi Hori, Yoshihiro Hotta
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract We report a 1-year-old girl with congenital stromal corneal dystrophy confirmed by genetic analysis. The ocular phenotype included diffuse opacity over the corneal stroma bilaterally. We performed a genetic analysis to provide counseling to
Externí odkaz:
https://doaj.org/article/de27436ffd084792a034d5c935776302
Autor:
Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract We report clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Patient 1 exhibited a unique constellation of clinical features including marked hy
Externí odkaz:
https://doaj.org/article/e26226f888b84c3dbfc3918a055ce68e
Autor:
Atsushi Hattori, Torayuki Okuyama, Tetsumin So, Motomichi Kosuga, Keiko Ichimoto, Kei Murayama, Masayo Kagami, Maki Fukami, Yasuyuki Fukuhara
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a maternally inherited splicing variant in
Externí odkaz:
https://doaj.org/article/afa5b489798645e088b9cf73ab60d398