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101 results

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Page 1
Evidence of causality of low body mass index on risk of adolescent idiopathic scoliosis: a Mendelian randomization study.
Otomo N, Khanshour AM, Koido M, Takeda K, Momozawa Y, Kubo M, Kamatani Y, Herring JA, Ogura Y, Takahashi Y, Minami S, Uno K, Kawakami N, Ito M, Sato T, Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Nakamura M, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Inami S, Wise CA, Kochi Y, Matsumoto M, Ikegawa S, Watanabe K, Terao C. Otomo N, et al. Among authors: wise ca. Front Endocrinol (Lausanne). 2023 Jun 20;14:1089414. doi: 10.3389/fendo.2023.1089414. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37415668 Free PMC article.
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. Rios JJ, et al. Among authors: wise ca. Am J Hum Genet. 2023 Dec 7;110(12):2103-2111. doi: 10.1016/j.ajhg.2023.10.009. Epub 2023 Nov 3. Am J Hum Genet. 2023. PMID: 37924809
Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.
Wang X, Yue M, Cheung JPY, Cheung PWH, Fan Y, Wu M, Wang X, Zhao S, Khanshour AM, Rios JJ, Chen Z, Wang X, Tu W, Chan D, Yuan Q, Qin D, Qiu G, Wu Z, Zhang TJ, Ikegawa S, Wu N, Wise CA, Hu Y, Luk KDK, Song YQ, Gao B. Wang X, et al. Among authors: wise ca. J Clin Invest. 2024 Jan 16;134(2):e168783. doi: 10.1172/JCI168783. J Clin Invest. 2024. PMID: 37962965 Free PMC article.
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JR. Jolly A, et al. Among authors: wise ca. HGG Adv. 2023 Mar 29;4(3):100188. doi: 10.1016/j.xhgg.2023.100188. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37124138 Free PMC article.
Molecular Dissection of Somatic Skeletal Disease in Neurofibromatosis Type 1.
Paria N, Khalid A, Shen B, Lemoine B, Chan J, Kidane YH, Oxendine I, Cornelia R, Wise CA, Rios JJ. Paria N, et al. Among authors: wise ca. J Bone Miner Res. 2023 Feb;38(2):288-299. doi: 10.1002/jbmr.4755. Epub 2022 Dec 13. J Bone Miner Res. 2023. PMID: 36459048 Free PMC article.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Szot JO, Cuny H, Martin EM, Sheng DZ, Iyer K, Portelli S, Nguyen V, Gereis JM, Alankarage D, Chitayat D, Chong K, Wentzensen IM, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais LS, Tan TY, Pitt J, Wise CA, Wright H, Andrews ID, Pruniski B, Grebe TA, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown NJ, Hunter MF, Heath O, Lakhani SA, McDermott JH, Ascher DB, Chapman G, Bozon K, Dunwoodie SL. Szot JO, et al. Among authors: wise ca. J Clin Invest. 2024 Feb 15;134(4):e174824. doi: 10.1172/JCI174824. J Clin Invest. 2024. PMID: 38357931 Free PMC article.
101 results