Search Results - "Kenichi Kashimada"

When to eat and sleep matters to children's health by Kashimada, Kenichi

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Sry: the master switch in mammalian sex determination by Kashimada, Kenichi, Koopman, Peter

“…SRY, the mammalian Y-chromosomal testis-determining gene, induces male sex determination. Recent studies in mice reveal that the major role of SRY is to…”
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Current and future perspectives on clinical management of classic 21-hydroxylase deficiency by Yogi, Analia, Kashimada, Kenichi

“…Optimizing the glucocorticoid dosage has been a major concern in classic 21OHD (21-hydroxylase deficiency) treatment, as it is essential to adjust it…”
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Endocrinopathies in Inborn Errors of Immunity by Takasawa, Kei, Kanegane, Hirokazu, Kashimada, Kenichi, Morio, Tomohiro

“…Inborn errors of immunity (IEI), caused by hereditary or genetic defects, are a group of more than 400 disorders, in which the immune system, including…”
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Inactivation of a Frameshift TSH Receptor Variant Val711Phefs18 is Due to Acquisition of a Hydrophobic Degron by Sugisawa, Chiho, Ono, Makoto, Kashimada, Kenichi, Hasegawa, Tomonobu, Narumi, Satoshi

“…Abstract Context Inactivating variants of thyrotropin (thyroid-stimulating hormone; TSH) receptor (TSHR) cause congenital hypothyroidism. More than 60 such…”
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Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan by Tsuji-Hosokawa, Atsumi, Kashimada, Kenichi

“…Congenital adrenal hyperplasia (CAH) is an inherited disorder caused by the absence or severely impaired activity of steroidogenic enzymes involved in cortisol…”
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Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan by Takasawa, Kei, Kashimada, Kenichi

“…The transition of patients with childhood-onset chronic diseases from pediatric to adult healthcare systems has recently received significant attention. Since…”
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Functional analysis of novel A20 variants in patients with atypical inflammatory diseases by Kadowaki, Saori, Hashimoto, Kunio, Nishimura, Toyoki, Kashimada, Kenichi, Kadowaki, Tomonori, Kawamoto, Norio, Imai, Kohsuke, Okada, Satoshi, Kanegane, Hirokazu, Ohnishi, Hidenori

“…A20 haploinsufficiency (HA20) is an early-onset autoinflammatory disease caused by mutations in the TNFAIP3 gene, which encodes the protein A20. Numerous…”
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Transcriptome analysis of umbilical cord mesenchymal stem cells revealed fetal programming due to chorioamnionitis by Noguchi, Yusuke, Taki, Atsuko, Honda, Izumi, Sugie, Manabu, Shidei, Tsunanori, Ito, Kazuyuki, Iwata, Haruka, Koyama, Akira, Okazaki, Kaoru, Kondo, Masatoshi, Morioka, Chikako, Kashimada, Kenichi, Morio, Tomohiro

“…Although chorioamnionitis (CAM) has been demonstrated to be associated with numerous short- and long-term morbidities, the precise mechanisms remain unclear…”
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PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma in Schuurs-Hoeijmakers syndrome by Ohkawa, Teppei, Nishimura, Akira, Kosaki, Kenjiro, Aoki-Nogami, Yuki, Tomizawa, Daisuke, Kashimada, Kenichi, Morio, Tomohiro, Kato, Motohiro, Mizutani, Shuki, Takagi, Masatoshi

“…PAX3/7-FOXO1 fusion-negative alveolar rhabdomyosarcoma (ARMS) developed in a patient presenting with intellectual disability and dysmorphic facial features…”
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A suspected case of heterotopic glia in an MM‐twin discordant for anencephaly by Noguchi, Yusuke, Shidei, Tsunanori, Morioka, Chikako, Kashimada, Kenichi, Morio, Tomohiro

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Autonomously functioning thyroid nodule due to a somatic TSHR mutation by Iemura, Ryosei, Kirino, Shizuka, Sutani, Akito, Kashimada, Kenichi, Takasawa, Kei

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Monitoring hypoparathyroidism in long QT syndrome detected by electrocardiogram screening by Nakamura, Arisa, Adachi, Eriko, Matsubara, Yohei, Ishii, Taku, Hosokawa, Susumu, Kashimada, Kenichi, Takasawa, Kei

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FOXL2 and BMP2 Act Cooperatively to Regulate Follistatin Gene Expression during Ovarian Development by Kashimada, Kenichi, Pelosi, Emanuele, Chen, Huijun, Schlessinger, David, Wilhelm, Dagmar, Koopman, Peter

“…Follistatin is a secreted glycoprotein required for female sex determination and early ovarian development, but the precise mechanisms regulating follistatin…”
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Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG) by Masunaga, Yohei, Nishimura, Gen, Takahashi, Koji, Hishiyama, Tomiyuki, Imamura, Masatoshi, Kashimada, Kenichi, Kadoya, Machiko, Wada, Yoshinao, Okamoto, Nobuhiko, Oba, Daiju, Ohashi, Hirofumi, Ikeno, Mitsuru, Sakamoto, Yuko, Fukami, Maki, Saitsu, Hirotomo, Ogata, Tsutomu

“…We report clinical and molecular findings in three Japanese patients with N -acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)…”
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Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports by Mizuno, Tomoko, Kanouchi, Tadashi, Tamura, Yumie, Hirata, Ko, Emoto, Runa, Suzuki, Tomonori, Kashimada, Kenichi, Morio, Tomohiro

“…Background Recently, there have been significant advances in the treatment of spinal muscular atrophy (SMA). Although clinical improvement in patients with SMA…”
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Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants by Yamauchi, Takeru, Imamura, Masatoshi, Takasawa, Kei, Nakajima, Keisuke, Nakagawa, Ryuichi, Gau, Maki, Sugie, Manabu, Taki, Atsuko, Kawai, Masahiko, Kashimada, Kenichi, Morio, Tomohiro

“…Hyperglycemia in extremely low-birth weight infants (ELBWIs) is frequently observed during the acute perinatal phase, (i.e., first 1–2 weeks postnatal period);…”
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Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia by Matsuda, Nozomi, Takasawa, Kei, Ohata, Yasuhisa, Takishima, Shigeru, Kubota, Takuo, Ishihara, Yasuki, Fujiwara, Makoto, Ogawa, Erika, Morio, Tomohiro, Kashimada, Kenichi, Ozono, Keiichi

“…Hypophosphatasia (HPP; OMIM 241510, 241500, and 146300) is an inherited metabolic disease characterized by defects of bone and tooth mineralization, which is…”
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The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients by Gau, Maki, Konishi, Kaoru, Takasawa, Kei, Nakagawa, Ryuichi, Tsuji‐Hosokawa, Atsumi, Hashimoto, Atsuko, Sutani, Akito, Tajima, Toshihiro, Hasegawa, Tomonobu, Morio, Tomohiro, Kashimada, Kenichi

“…Background One of the major purposes of newborn screening for 21‐hydroxylase deficiency (21OHD) is preventing life‐threatening adrenal crisis. However, the…”
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Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B) by Takatani, Rieko, Minagawa, Masanori, Molinaro, Angelo, Reyes, Monica, Kinoshita, Kaori, Takatani, Tomozumi, Kazukawa, Itsuro, Nagatsuma, Misako, Kashimada, Kenichi, Sato, Kenichi, Matsushita, Kazuyuki, Nomura, Fumio, Shimojo, Naoki, Jüppner, Harald

“…Abstract Pseudohypoparathyroidism type Ib (PHP1B) is caused by proximal tubular resistance to parathyroid hormone that occurs in most cases in the absence of…”
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