Ma J - Search Results

1

Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets.

Huang J, Bao X, Xia W, Zhu L, Zhang J, Ma J, Jiang N, Yang J, Chen Q, Jing T, Liu J, Ma D, Xu G. Huang J, et al. Among authors: ma d, ma j. Bone Joint Res. 2019 Sep 3;8(8):405-413. doi: 10.1302/2046-3758.88.BJR-2018-0276.R1. eCollection 2019 Aug. Bone Joint Res. 2019. PMID: 31537998 Free PMC article.

CONCLUSION: We have found a de novo loss-of-function mutation, c.1692 del A, in exon 16 of the PHEX gene that can cause XLHR.Cite this article: J. Huang, X. Bao, W. Xia, L. Zhu, J. Zhang, J. Ma, N. Jiang, J. Yang, Q. Chen, T. Jing, J. Liu …

CONCLUSION: We have found a de novo loss-of-function mutation, c.1692 del A, in exon 16 of the PHEX gene that can cause XLHR.Cite this artic …

2

SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.

Ma Z, Xia W, Liu F, Ma J, Sun S, Zhang J, Jiang N, Wang X, Hu J, Ma D. Ma Z, et al. Among authors: ma d, ma j. Hum Mol Genet. 2017 Jan 15;26(2):383-394. doi: 10.1093/hmg/ddw394. Hum Mol Genet. 2017. PMID: 28013291

3

A novel loss-of-function heterozygous BRCA2 c.8946_8947delAG mutation found in a Chinese woman with family history of breast cancer.

Ma J, Yang J, Jian W, Wang X, Xiao D, Xia W, Xiong L, Ma D. Ma J, et al. Among authors: ma d. J Cancer Res Clin Oncol. 2017 Apr;143(4):631-637. doi: 10.1007/s00432-016-2327-9. Epub 2017 Jan 5. J Cancer Res Clin Oncol. 2017. PMID: 28058502

4

New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.

Xia W, Hu J, Liu F, Ma J, Sun S, Zhang J, Jin K, Huang J, Jiang N, Wang X, Li W, Ma Z, Ma D. Xia W, et al. Among authors: ma d, ma j, ma z. Hum Mutat. 2017 Oct;38(10):1421-1431. doi: 10.1002/humu.23285. Epub 2017 Aug 1. Hum Mutat. 2017. PMID: 28677207

5

Recent advances in the epigenetics of bone metabolism.

Xu Y, Ma J, Xu G, Ma D. Xu Y, et al. Among authors: ma d, ma j. J Bone Miner Metab. 2021 Nov;39(6):914-924. doi: 10.1007/s00774-021-01249-8. Epub 2021 Jul 11. J Bone Miner Metab. 2021. PMID: 34250565 Review.

6

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.

Liu F, Hu J, Xia W, Hao L, Ma J, Ma D, Ma Z. Liu F, et al. Among authors: ma d, ma j, ma z. PLoS One. 2015 May 11;10(5):e0126602. doi: 10.1371/journal.pone.0126602. eCollection 2015. PLoS One. 2015. PMID: 25961296 Free PMC article.

7

Down-regulation of msrb3 and destruction of normal auditory system development through hair cell apoptosis in zebrafish.

Shen X, Liu F, Wang Y, Wang H, Ma J, Xia W, Zhang J, Jiang N, Sun S, Wang X, Ma D. Shen X, et al. Among authors: ma d, ma j. Int J Dev Biol. 2015;59(4-6):195-203. doi: 10.1387/ijdb.140200md. Int J Dev Biol. 2015. PMID: 26505252 Free article.

8

SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.

Ma Z, Xia W, Liu F, Ma J, Sun S, Zhang J, Jiang N, Wang X, Hu J, Ma D. Ma Z, et al. Among authors: ma d, ma j. Hum Mol Genet. 2017 Aug 15;26(16):3234. doi: 10.1093/hmg/ddx232. Hum Mol Genet. 2017. PMID: 28859437 No abstract available.

9

Epigenetic regulation of megakaryocytic and erythroid differentiation by PHF2 histone demethylase.

Yang J, Ma J, Xiong Y, Wang Y, Jin K, Xia W, Chen Q, Huang J, Zhang J, Jiang N, Jiang S, Ma D. Yang J, et al. Among authors: ma d, ma j. J Cell Physiol. 2018 Sep;233(9):6841-6852. doi: 10.1002/jcp.26438. Epub 2018 Mar 25. J Cell Physiol. 2018. PMID: 29336484

10

The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer.

Li S, Ma J, Hu C, Zhang X, Xiao D, Hao L, Xia W, Yang J, Hu L, Liu X, Dong M, Ma D, Liu R. Li S, et al. Among authors: ma d, ma j. J Breast Cancer. 2018 Sep;21(3):330-333. doi: 10.4048/jbc.2018.21.e33. Epub 2018 Aug 28. J Breast Cancer. 2018. PMID: 30275862 Free PMC article.

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