Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ... Science immunology 6 (62), eabl4340, 2021 | 440 | 2021 |
Sry: the master switch in mammalian sex determination K Kashimada, P Koopman Development 137 (23), 3921-3930, 2010 | 440 | 2010 |
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 334 | 2021 |
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ... Proceedings of the National Academy of Sciences 119 (21), 2022 | 128 | 2022 |
FOXL2 and BMP2 Act Cooperatively to Regulate Follistatin Gene Expression during Ovarian Development K Kashimada, E Pelosi, H Chen, D Schlessinger, D Wilhelm, P Koopman Endocrinology 152 (1), 272-280, 2011 | 121 | 2011 |
Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice K Kashimada, T Svingen, CW Feng, E Pelosi, S Bagheri-Fam, VR Harley, ... The FASEB Journal 25 (10), 3561, 2011 | 94 | 2011 |
Identification of suitable normalizing genes for quantitative real-time RT-PCR analysis of gene expression in fetal mouse gonads T Svingen, CM Spiller, K Kashimada, VR Harley, P Koopman Sexual Development 3 (4), 194-204, 2009 | 68 | 2009 |
FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice K Takasawa, K Kashimada, E Pelosi, M Takagi, T Morio, H Asahara, ... The FASEB Journal 28 (5), 2020, 2014 | 64 | 2014 |
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues M Igarashi, K Takasawa, A Hakoda, J Kanno, S Takada, M Miyado, ... Human mutation 38 (1), 39-42, 2017 | 54 | 2017 |
Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study A Tsuji, K Konishi, S Hasegawa, A Anazawa, T Onishi, M Ono, T Morio, ... BMC pediatrics 15, 1-8, 2015 | 53 | 2015 |
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib … R Takatani, M Minagawa, A Molinaro, M Reyes, K Kinoshita, T Takatani, ... Bone 79, 15-20, 2015 | 52 | 2015 |
Liquid chromatography–tandem mass spectrometric method for determination of salivary 17α-hydroxyprogesterone: a noninvasive tool for evaluating efficacy of hormone replacement … Y Shibayama, T Higashi, K Shimada, K Kashimada, T Onishi, M Ono, ... Journal of Chromatography B 867 (1), 49-56, 2008 | 45 | 2008 |
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis H Shima, T Tanaka, T Kamimaki, S Dateki, K Muroya, R Horikawa, ... Journal of human genetics 61 (7), 585-591, 2016 | 40 | 2016 |
TALEN-mediated gene disruption on Y chromosome reveals critical role of EIF2S3Y in mouse spermatogenesis Y Matsubara, T Kato, K Kashimada, H Tanaka, Z Zhi, S Ichinose, ... Stem cells and development 24 (10), 1164-1170, 2015 | 36 | 2015 |
International consensus guideline on small for gestational age: etiology and management from infancy to early adulthood ACS Hokken-Koelega, M van der Steen, MCS Boguszewski, S Cianfarani, ... Endocrine Reviews 44 (3), 539-565, 2023 | 35 | 2023 |
Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood K Kashimada, M Ono, T Onishi, S Koyama, T Toyoura, K Imai, S Saisho, ... Endocrine journal 55 (2), 397-404, 2008 | 34 | 2008 |
RMRP mutations in Japanese patients with cartilage‐hair hypoplasia E Nakashima, A Mabuchi, K Kashimada, T Onishi, J Zhang, H Ohashi, ... American Journal of Medical Genetics Part A 123 (3), 253-256, 2003 | 33 | 2003 |
Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus Y Matsubara, T Chiba, K Kashimada, T Morio, S Takada, S Mizutani, ... Scientific reports 4 (1), 5043, 2014 | 32 | 2014 |
Neutralizing type I interferon autoantibodies in Japanese patients with severe COVID-19 S Eto, Y Nukui, M Tsumura, Y Nakagama, K Kashimada, Y Mizoguchi, ... Journal of Clinical Immunology 42 (7), 1360-1370, 2022 | 29 | 2022 |
Defects in growth and bone metabolism in klotho mutant mice are resistant to GH treatment K Kashimada, T Yamashita, K Tsuji, A Nifuji, S Mizutani, Y Nabeshima, ... Journal of endocrinology 174 (3), 403-410, 2002 | 24 | 2002 |