Kosaki K - Search Results

1

X -linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review.

Kuroda A, Namkoong H, Iwami E, Tsutsumi A, Nakajima T, Shinoda H, Katada Y, Iimura J, Suzuki H, Kosaki K, Terashima T. Kuroda A, et al. Among authors: kosaki k. Respirol Case Rep. 2023 Oct 31;11(12):e01240. doi: 10.1002/rcr2.1240. eCollection 2023 Dec. Respirol Case Rep. 2023. PMID: 37915370 Free PMC article.

2

A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.

Takahashi I, Noguchi A, Kondo D, Sato Y, Suzuki H, Yamada M, Kosaki K, Takahashi T. Takahashi I, et al. Among authors: kosaki k. Clin Pediatr Endocrinol. 2024;33(1):39-42. doi: 10.1297/cpe.2023-0027. Epub 2024 Jan 28. Clin Pediatr Endocrinol. 2024. PMID: 38299177 Free PMC article. No abstract available.

3

Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function.

Kaneko S, Sakura F, Tanita K, Shimbo A, Nambu R, Yoshida M, Umetsu S, Inui A, Okada C, Tsumura M, Yamada M, Suzuki H, Kosaki K, Ohara O, Shimizu M, Morio T, Okada S, Kanegane H. Kaneko S, et al. Among authors: kosaki k. Immunother Adv. 2023 Nov 24;3(1):ltad027. doi: 10.1093/immadv/ltad027. eCollection 2023. Immunother Adv. 2023. PMID: 38549698 Free PMC article.

4

GATA2 deficiency of a novel missense variant with multiorgan inflammation.

Baba H, Kimura N, Kanegane H, Miya F, Kosaki K, Morio T, Koike R. Baba H, et al. Among authors: kosaki k. Rheumatology (Oxford). 2024 Jan 30:keae062. doi: 10.1093/rheumatology/keae062. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 38290790 No abstract available.

5

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing.

Kurosawa R, Iida K, Ajiro M, Awaya T, Yamada M, Kosaki K, Hagiwara M. Kurosawa R, et al. Among authors: kosaki k. BMC Genomics. 2023 Oct 10;24(1):601. doi: 10.1186/s12864-023-09645-2. BMC Genomics. 2023. PMID: 37817060 Free PMC article.

6

Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis.

Saito S, Saito Y, Sato S, Aoki S, Fujita H, Ito Y, Ono N, Funakoshi T, Kawai T, Suzuki H, Sasaki T, Tanaka T, Inoie M, Hata K, Kataoka K, Kosaki K, Amagai M, Nakabayashi K, Kubo A. Saito S, et al. Among authors: kosaki k. Am J Hum Genet. 2024 May 2;111(5):896-912. doi: 10.1016/j.ajhg.2024.03.017. Epub 2024 Apr 22. Am J Hum Genet. 2024. PMID: 38653249

7

Exercise instruction during haemodialysis treatment after changes to the insurance regime: a nationwide questionnaire survey in Japan.

Sofue T, Matsuzawa R, Nishiwaki H, Tsuchida Y, Kosaki K, Hoshino J, Narita I, Yamagata K. Sofue T, et al. Among authors: kosaki k. Sci Rep. 2024 Apr 22;14(1):9171. doi: 10.1038/s41598-024-59995-4. Sci Rep. 2024. PMID: 38649730 Free PMC article.

8

Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.

Yamada M, Mizuno S, Inaba M, Uehara T, Inagaki H, Suzuki H, Miya F, Takenouchi T, Kurahashi H, Kosaki K. Yamada M, et al. Among authors: kosaki k. Am J Med Genet A. 2024 Apr 2:e63614. doi: 10.1002/ajmg.a.63614. Online ahead of print. Am J Med Genet A. 2024. PMID: 38562108

9

Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration.

Yamada M, Maeta K, Suzuki H, Kurosawa R, Takenouchi T, Awaya T, Ajiro M, Takeuchi A, Nishio H, Hagiwara M, Miya F, Matsuo M, Kosaki K. Yamada M, et al. Among authors: kosaki k. Sci Rep. 2024 Mar 18;14(1):6506. doi: 10.1038/s41598-024-56704-z. Sci Rep. 2024. PMID: 38499569 Free PMC article.

10

Combined effects of sleep and objectively-measured daily physical activity on arterial stiffness in middle-aged and older adults.

Choi Y, Kosaki K, Akazawa N, Tanahashi K, Maeda S. Choi Y, et al. Among authors: kosaki k. Exp Gerontol. 2024 Apr;188:112397. doi: 10.1016/j.exger.2024.112397. Epub 2024 Mar 12. Exp Gerontol. 2024. PMID: 38461873 Free article.

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