Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, Hélène Cavé, Alain Verloès, Nobuhiko Okamoto, Hiroshi Kawame, Ikuma Fujiwara, Fumio Takada, Takako Ohata, Satoru Sakazume, Tatsuya Ando, Noriko Nakagawa, Pablo Lapunzina, Antonio González Meneses, Gabriele Gillessen‐Kaesbach, Dagmar Wieczorek, Kenji Kurosawa, Seiji Mizuno, Hirofumi Ohashi, Albert David, Nicole Philip, Afag Guliyeva, Yoko Narumi, Shigeo Kure, Shigeru Tsuchiya, Yoichi Matsubara,
... FranceSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Medical Genetics, Osaka Medical Center and ... FranceSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Medical Genetics, Osaka Medical Center and ...
Tópico(s): Galectins and Cancer Biology
2010 - Wiley | Human Mutation
Tadashi Kaname, Kumiko Yanagi, Nobuhiko Okamoto, Kenji Naritomi,
... JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Developmental Medicine, Osaka Medical Center and ... JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Developmental Medicine, Osaka Medical Center and ...
Tópico(s): Connective tissue disorders research
2006 - Wiley | American Journal of Medical Genetics Part A
Noriko Miyake, Osamu Shimokawa, Naoki Harada, Nadia Sosonkina, Aiko Okubo, Hiroki Kawara, Nobuhiko Okamoto, Hirofumi Ohashi, Kenji Kurosawa, Kenji Naritomi, Tadashi Kaname, Toshiro Nagai, Vorasuk Shotelersuk, Jia‐Woei Hou, Yoshimitsu Fukushima, Tatsuro Kondoh, Tadashi Matsumoto, Toshihiko Shinoki, Mitsuhiro Kato, Hidefumi Tonoki, Masayo Nomura, Ko‐ichiro Yoshiura, Tatsuya Kishino, Tohru Ohta, Norio Niikawa, Naomichi Matsumoto,
... JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Planning and Research, Osaka Medical Center ... JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Planning and Research, Osaka Medical Center ...
Tópico(s): Genetic factors in colorectal cancer
2005 - Wiley | American Journal of Medical Genetics Part A
Noriko Miyake, Remco Visser, Akira Kinoshita, Ko‐ichiro Yoshiura, Norio Niikawa, Tatsuro Kondoh, Naomichi Matsumoto, Naoki Harada, Nobuhiko Okamoto, Tohru Sonoda, Kenji Naritomi, Tadashi Kaname, Yasutsugu Chinen, Hidefumi Tonoki, Kenji Kurosawa,
... JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Planning and Research, Osaka Medical Center ... JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Planning and Research, Osaka Medical Center ...
Tópico(s): RNA Research and Splicing
2005 - Wiley | American Journal of Medical Genetics Part A
Masato Tsukahara, Nobuhiko Okamoto, Hirofumi Ohashi, Katsuko Kuwajima, Ikuko Kondo, Hideo Sugie, Toshiro Nagai, Kenji Naritomi, Tomoko Hasegawa, Yoshimitsu Fukushima, Mitsuo Masuno, Yoshikazu Kuroki,
... Search for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Planning and Research, Osaka Medical Center ... Search for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Planning and Research, Osaka Medical Center ...
Tópico(s): RNA and protein synthesis mechanisms
1998 - Wiley | American Journal of Medical Genetics
Masao Nakagawa, Nobuhiko Okamoto, Hidetoshi Fujino, Noriko Watanabe, Masahiko Okuno,
... JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Pediatrics, Shiga University of Medical Science, ... JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Pediatrics, Shiga University of Medical Science, ...
Tópico(s): Coronary Artery Anomalies
2000 - Wiley | American Journal of Medical Genetics
Ai Unzaki, Naoya Morisada, Kandai Nozu, Ming Juan Ye, Shuichi Ito, Tatsuo Matsunaga, Kenji Ishikura, Shihomi Ina, Koji Nagatani, Takayuki Okamoto, Yuji Inaba, Naoko Ito, Toru Igarashi, Shoichiro Kanda, Ken Ito, Kohei Omune, Takuma Iwaki, Kazuyuki Ueno, Mayumi Yahata, Yasufumi Ohtsuka, Eriko Nishi, Nobuya Takahashi, Tomoaki Ishikawa, Shunsuke Goto, Nobuhiko Okamoto, Kazumoto Iijima,
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of this study was to reveal the clinical phenotypes and their causative genes in Japanese BOR patients. Patients clinically diagnosed with BOR syndrome were analyzed by direct sequencing, multiplex ligation-dependent probe amplification (MLPA), array-based comparative genomic hybridization (aCGH), and next-generation sequencing (NGS). We identified ...
Tópico(s): Fetal and Pediatric Neurological Disorders
2018 - Springer Nature | Journal of Human Genetics
Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun‐ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko‐ichiro Yoshiura, Naomichi Matsumoto, Norio Niikawa,
Abstract Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or whole ...
Tópico(s): Immunodeficiency and Autoimmune Disorders
2013 - Wiley | American Journal of Medical Genetics Part A
Nobuhiko Okamoto, Rolando F. Del Maestro, Rebeca Valero, Eugènia Monrós, Pilar Póo, Yonehiro Kanemura, Mami Yamasaki,
Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural-cell adhesion molecules, are associated with X-linked hydrocephalus and some allelic disorders. Hirschsprung's disease (HSCR) is characterized by the absence of ganglion cells and the presence of hypertrophic nerve trunks in the distal bowel. There have been three reports of patients with X-linked hydrocephalus and HSCR with a mutation in the L1CAM gene. We report three more patients with similar conditions. ...
Tópico(s): Fetal and Pediatric Neurological Disorders
2004 - Springer Nature | Journal of Human Genetics
N Harada, Eli Hatchwell, Nobuhiko Okamoto, Masato Tsukahara, Kenji Kurosawa, Hiroshi Kawame, T Kondoh, Hirofumi Ohashi, Ryuichi Tsukino, Yuki Kondoh, Osamu Shimokawa, Takashi Ida, Toshiro Nagai, Yoshimitsu Fukushima, K. Yoshiura, Norio Niikawa, Naomichi Matsumoto,
ABSTRACT In many cooperatively breeding societies non-breeding individuals help to rear the offspring of breeders. The physiological mechanisms that regulate such cooperative helping behavior are poorly understood, but may have been co-opted, during the evolution of cooperative breeding, from pre-existing mechanisms that regulated parental care. Key among these may be a role for prolactin. Here we investigate whether natural variation in circulating prolactin levels predicts both parental and helper contributions ...
Tópico(s): Genetic diversity and population structure
2004 - BMJ | Journal of Medical Genetics
Noriko Miyake, Naohiro Kurotaki, Hirobumi Sugawara, Osamu Shimokawa, Naoki Harada, Tatsuro Kondoh, Masato Tsukahara, Satoshi Ishikiriyama, Tohru Sonoda, Yoko Miyoshi, Satoru Sakazume, Yoshimitsu Fukushima, Hirofumi Ohashi, Toshiro Nagai, Hiroshi Kawame, Kenji Kurosawa, Mayumi Touyama, Takashi Shiihara, Nobuhiko Okamoto, Junji Nishimoto, Ko‐ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto,
Sotos syndrome (SoS) is characterized by pre- and postnatal overgrowth with advanced bone age; a dysmorphic face with macrocephaly and pointed chin; large hands and feet; mental retardation; and possible susceptibility to tumors. It has been shown that the major cause of SoS is haploinsufficiency of the NSD1 gene at 5q35, because the majority of patients had either a common microdeletion including NSD1 or a truncated type of point mutation in NSD1. In the present study, we traced the parental origin ...
Tópico(s): Wnt/β-catenin signaling in development and cancer
2003 - Elsevier BV | The American Journal of Human Genetics
Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa, Noriko Miyake, Hiroshi Kawame, Kimiaki Uetake, Yoshio Makita, Tatsuro Kondoh, Tsutomu Ogata, Tomoko Hasegawa, Toshiro Nagai, Takao Ozaki, Mayumi Touyama, Ruthie Shenhav, Hirofumi Ohashi, Līvija Medne, Takashi Shiihara, Shigeyuki Ohtsu, Zen-ichiro Kato, Nobuhiko Okamoto, Junji Nishimoto, Dorit Lev, Yoko Miyoshi, Satoshi Ishikiriyama, Tohru Sonoda, Satoru Sakazume, Yoshimitsu Fukushima, Kenji Kurosawa, Jan‐Fang Cheng, Koh-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto,
Sotos syndrome (SoS) is an autosomal dominant overgrowth syndrome with characteristic craniofacial dysmorphic features and various degrees of mental retardation. We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients examined. Since the first report, an additional 70 SoS cases consisting of 53 Japanese and 17 non-Japanese have been analyzed. We found 50 microdeletions ( ...
Tópico(s): Genomics and Rare Diseases
2003 - Wiley | Human Mutation
Takeo Kubota, Keiko Wakui, Takamitsu Nakamura, Haruhiko Ohashi, Yoriko Watanabe, Makoto Yoshino, Tomonobu KIDA, Nobuhiko Okamoto, Masayuki MATSUMURA, Koji Muroya, Tsutomu Ogata, Y. Goto, Y. Fukushima,
Turner syndrome females (45,X) do not have mental retardation (MR), whereas some mosaic ring X Turner syndrome females, with 45,X/46,X,r(X), have severe MR. The MR is believed to be caused by a failure of X chromosome inactivation (XCI) of the small ring X chromosome, which leads to functional X disomy (FXD), To explore this hypothesis, we examined the proportion of FXD cells in the peripheral blood of four ring X Turner syndrome females with various levels of MR, using two newly developed XCI assays ...
Tópico(s): Poverty, Education, and Child Welfare
2002 - Karger Publishers | Cytogenetic and Genome Research
Kuriko Kagitani‐Shimono, Katsumi Imai, Nobuhiko Okamoto, Jiro Ono, Shintaro Okada,
The clinical, neurophysiologic, and genetic findings in two Japanese patients with the Unverricht-Lundborg type of progressive myoclonus epilepsy are described. The cystatin B gene of Patient 1 exhibited expansion of the dodecamer (12-mer) repeat located in the 5' region and a point mutation (G-->A mutation) in exon 2. The cystatin B gene of Patient 2 exhibited homozygous expansion of the dodecamer repeat. Both parents of Patient 2 were heterozygous carriers. The two patients had a similar clinical ...
Tópico(s): Autoimmune Neurological Disorders and Treatments
2002 - Elsevier BV | Pediatric Neurology
Yukiko Senga, Kazuo Mochida, Nobuhiko Okamoto, Ryuji Fukumori, Y. Seike,
Tópico(s): Aquatic Ecosystems and Phytoplankton Dynamics
2002 - Springer Science+Business Media | Limnology
Findy Renggono, Hiroyuki Hashiguchi, S. Fukao, Manabu D. Yamanaka, Shin‐Ya Ogino, Nobuhiko Okamoto, Fumie Murata, Baginda P. Sitorus, Mahally Kudsy, Mahdi Kartasasmita, Gunawan Ibrahim,
Abstract. Temporal variations of precipitating clouds in equatorial Indonesia have been studied based on observations with 1357.5 MHz boundary layer radars at Serpong (6.4° S, 106.7° E) near Jakarta and Bukittinggi (0.2° S, 100.3° E) in West Sumatera. We have classified precipitating clouds into four types: stratiform, mixed stratiform-convective, deep convective, and shallow convective clouds, using the Williams et al. (1995) method. Diurnal variations of the occurrence of precipitating clouds at ...
Tópico(s): Atmospheric aerosols and clouds
2001 - Copernicus Publications | Annales Geophysicae
Masao Nakagawa, Masahiko Okuno, Nobuhiko Okamoto, Hidetoshi Fujino, Hirofumi Kato,
We describe a Japanese girl with Bernard-Soulier syndrome and 22q11.2 microdeletion. She had viral infections and recurrent thrombocytopenia and hemorrhagic diathesis after cardiac surgery. As congenital heart defects and abnormal immunity are the most common clinical manifestations associated with 22q11.2 deletion, patients with this association may have a greater risk of developing a severe bleeding disorder. © 2001 Wiley-Liss. Inc.
Tópico(s): Coronary Artery Anomalies
2001 - Wiley | American Journal of Medical Genetics
Masao Nakagawa, Noriko Watanabe, Masahiko Okuno, Nobuhiko Okamoto, Hidetoshi Fujino,
We retrospectively studied 3 patients with Kawasaki disease (KD) and acute myocardial infarction (AMI) who were treated with intracoronary administration of tissue-type plasminogen activator (t-PA). Two-dimensional echocardiogram on the next day of the treatment revealed reduction of thrombus and improvement of the cardiac function in all 3 patients. However, a 12-month-old patient treated with 200,000 U/kg of t-PA at 48 h after the onset of AMI died of recurrent myocardial infarction. The other 2 ...
Tópico(s): Cardiac Structural Anomalies and Repair
2000 - Karger Publishers | Cardiology
S. Nishijima, Masao Nakagawa, Hidetoshi Fujino, Takashi Hanato, Nobuhiko Okamoto, Masako Shimada,
Bis-diamine induces cardiac defects, including conotruncal anomalies in rat embryos when the agent is administered to the mother. To evaluate the teratogenic effects and mechanism of bis-diamine, we performed morphological and immunohistochemical analyses of early rat embryos cultured in medium containing bis-diamine.The embryos were removed from mother rats on gestational day 10.5 and cultured in medium containing 1 mg of bis-diamine for 6 hr. The embryos were then cultured in medium only for another ...
Tópico(s): Neurological diseases and metabolism
2000 - Wiley | Birth Defects Research
Setsuko Nishijima, Masao Nakagawa, Hidetoshi Fujino, Takashi Hanato, Nobuhiko Okamoto, Morimi Shimada,
Background: Bis-diamine induces cardiac defects, including conotruncal anomalies in rat embryos when the agent is administered to the mother. To evaluate the teratogenic effects and mechanism of bis-diamine, we performed morphological and immunohistochemical analyses of early rat embryos cultured in medium containing bis-diamine. Methods: The embryos were removed from mother rats on gestational day 10.5 and cultured in medium containing 1 mg of bis-diamine for 6 hr. The embryos were then cultured ...
Tópico(s): Pluripotent Stem Cells Research
2000 - Wiley | Birth Defects Research
Nobuhiko Okamoto, Yoshinao Wada, Shinobu Ida, Ryoichi Koga, Kelichi Ozono, Hideaki Chiyo, Akira Hayashi, Ke-ita Tatsumi,
The combined deficiency of thyrotropin, growth hormone and prolactin, caused by PIT1 abnormality manifests in the homozygous or heterozygous state. We studied a patient having an allele with Arg271Trp mutation, which produces clinical symptoms in heterozygotes by a dominant-negative effect. However, in the family, her father, grandmother and aunts had the same mutation without clinical symptoms, although the proband had typical phenotypic expression. We analyzed the PIT1 transcript in peripheral ...
Tópico(s): Genetic Syndromes and Imprinting
1994 - Oxford University Press | Human Molecular Genetics
Nobuhiko Okamoto, Hideaki Chiyo, Katsumi Imai, Kazumasa Otani, Yasuyuki Futagi,
Tópico(s): Carbohydrate Chemistry and Synthesis
1994 - Springer Science+Business Media | Human Genetics
Toyofumi Nakanishi, Nobuhiko Okamoto, Koichi Tanaka, Akira Shimizu,
Serum transferrin precipitated with anti-transferrin serum was analysed by matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOFMS). The transferrin-antibody complex in the immunoprecipitates was separated into transferrin and IgG in an acidic pH, which is the usual condition of loading on MALDI-TOFMS. Ions of IgG and other minor components were not superimposed on the transferrin ions. Transferrin isoforms with different carbohydrate contents could be identified ...
Tópico(s): Hemoglobin structure and function
1994 - Wiley | Biological Mass Spectrometry
Nobuhiko Okamoto, Yoshiro Wada, Mitsuru Kobayashi, Kazumasa Otani, Tetsuzo Tagawa, Yasuyuki Futagi, Yuzo Imayoshi, Atsushi Hayashi, Akira Shimizu, Yasukazu Kato,
Summary The carbohydrate‐deficient glycoprotein (CDG) syndromes are a newly recognized group of inherited metabolic diseases. We report a Japanese brother and sister with a CDG syndrome. Both patients showed decreased activities of blood coagulation Factor XI and of the coagulation inhibitor protein C. In one of them there was also a somewhat decreased activity of Factor IX and of antithrombin III. Isoelectric focusing of antithrombin III revealed a decrease of negatively charged fractions and an ...
Tópico(s): Glycogen Storage Diseases and Myoclonus
1993 - Springer Science+Business Media | Journal of Inherited Metabolic Disease
Yoshinao Wada, Atsushi Nishikawa, Nobuhiko Okamoto, Koji Inui, Hiroko Tsukamoto, Shintaro Okada, Naoyuki Taniguchi,
Tópico(s): Protein Structure and Dynamics
1992 - Elsevier BV | Biochemical and Biophysical Research Communications
Yoshihiko Yamamoto, R. Sawa, Nobuhiko Okamoto, Aya Matsui, Masayoshi Yanagisawa, Shigenori Ikemoto,
Tópico(s): Molecular Biology Techniques and Applications
1986 - Springer Science+Business Media | Human Genetics
Melissa L. Johnson, Mark M. Awad, T. Koyama, Martin Gutierrez, G.S. Falchook, Sarina A. Piha‐Paul, Toshihiko Doi, Toru Satoh, Nobuhiko Okamoto, Jasveer Singh, N. Yoshizuka, M. Qian, Xiaozhong Qian, Brittany P. Tran, O. Dosunmu, Rastislav Mucha, Hillarie Plessner Windish, Manish R. Patel,
B7 homolog 3 (B7-H3), a transmembrane immunoregulatory protein is overexpressed in several tumor types including small-cell lung cancer (SCLC). Among patients with SCLC, 65% have moderate-to-high expression of B7-H3. I-DXd is a novel B7-H3-directed antibody-drug conjugate that leverages the clinically validated deruxtecan (DXd) technology, with a plasma-stable linker and potent topoisomerase I inhibitor payload, to enhance selective tumor cell death and reduce systemic exposure of the payload. We conducted ...
Tópico(s): Nanoparticle-Based Drug Delivery
2023 - Elsevier BV | Journal of Thoracic Oncology
Mamiko Yamada, Yohei Nitta, Tomoko Uehara, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Masaru Tamura, Shinya Ayabe, Atsushi Yoshiki, Akiteru Maeno, Yumiko Saga, Tamio Furuse, Ikuko Yamada, Nobuhiko Okamoto, Kenjiro Kosaki, Atsushi Sugie,
DExH-box helicases are involved in unwinding of RNA and DNA. Among the 16 DExH-box genes, monoallelic variants of DHX16, DHX30, DHX34, and DHX37 are known to be associated with neurodevelopmental disorders. In particular, DHX30 is well established as a causative gene for neurodevelopmental disorders. Germline variants of DHX9, the closest homolog of DHX30, have not been reported until now as being associated with congenital disorders in humans, except that one de novo heterozygous variant, p.(Arg1052Gln) ...
Tópico(s): RNA Research and Splicing
2023 - Elsevier BV | European Journal of Medical Genetics
Yūji Takahashi, Hidetoshi Date, Hideki Oi, Takeya Adachi, Noriaki Imanishi, En Kimura, Hotake Takizawa, Shinji Kosugi, Naomichi Matsumoto, Kenjiro Kosaki, Yoichi Matsubara, Yukio Ando, Toshihisa Anzai, Tadashi Ariga, Yoshimitsu Fukushima, Yoshihiko Furusawa, Akira Ganaha, Yu‐ichi Goto, Kenichiro Hata, Masataka Honda, Kazumoto Iijima, Tsunakuni Ikka, Issei Imoto, Tadashi Kaname, Masao Kobayashi, Seiji Kojima, Hiroki Kurahashi, Shigeo Kure, Kenji Kurosawa, Yoshihiro Maegaki, Yoshio Makita, Tomohiro Morio, Ichiei Narita, Fumio Nomura, Tsutomu Ogata, Keiichi Ozono, Akira Oka, Nobuhiko Okamoto, Shinji Saitoh, Akihiro Sakurai, Fumio Takada, Tsutomu TAKAHASHI, Akira Tamaoka, Akihiro Umezawa, Akihiro Yachie, Kouichiro Yoshiura, Yasutsugu Chinen, Mariko Eguchi, Keishi Fujio, Kiminori Hosoda, Tomohiko Ichikawa, Toshitaka Kawarai, Tomoki Kosho, Mitsuo Masuno, Akie Nakamura, Takaya Nakane, Tomoo Ogi, Satoshi Okada, Yasushi Sakata, Toshiyuki Seto, Yoshiyuki Takahashi, Tadao Takano, Mitsuharu Ueda, Hideaki Yagasaki, Toshiyuki Yamamoto, Atsushi Watanabe, Yoshihiro Hotta, Akiharu Kubo, Hirofumi Maruyama, Keiji Moriyama, Eiji Nanba, Norio Sakai, Yoshiki Sekijima, Toru Shimosegawa, Tsutomu Takeuchi, Shin‐ichi Usami, Kazuhiko Yamamoto, Hidehiro Mizusawa,
The identification of causative genetic variants for hereditary diseases has revolutionized clinical medicine and an extensive collaborative framework with international cooperation has become a global trend to understand rare disorders. The Initiative on Rare and Undiagnosed Diseases (IRUD) was established in Japan to provide accurate diagnosis, discover causes, and ultimately provide cures for rare and undiagnosed diseases. The fundamental IRUD system consists of three pillars: IRUD diagnostic ...
Tópico(s): Cancer Genomics and Diagnostics
2022 - Springer Nature | Journal of Human Genetics
Kohei Hamanaka, Noriko Miyake, Takeshi Mizuguchi, Satoko Miyatake, Yuri Uchiyama, Naomi Tsuchida, Futoshi Sekiguchi, Satomi Mitsuhashi, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Kohei Yamada, Masamune Sakamoto, Hiromi Fukuda, Sachiko Ohori, Ken Saida, Toshiyuki Itai, Yoshiteru Azuma, Eriko Koshimizu, Atsushi Fujita, Biray Ertürk, Yoko Hiraki, Gaik-Siew Ch’ng, Mitsuhiro Kato, Nobuhiko Okamoto, Atsushi Takata, Naomichi Matsumoto,
Abstract Background Previous large-scale studies of de novo variants identified a number of genes associated with neurodevelopmental disorders (NDDs); however, it was also predicted that many NDD-associated genes await discovery. Such genes can be discovered by integrating copy number variants (CNVs), which have not been fully considered in previous studies, and increasing the sample size. Methods We first constructed a model estimating the rates of de novo CNVs per gene from several factors such ...
Tópico(s): Congenital heart defects research
2022 - BioMed Central | Genome Medicine