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Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7

JOURNAL ARTICLE published 11 April 2024 in Journal of Human Genetics

Authors: Yukiko Kuroda | Takuya Naruto | Yu Tsuyusaki | Ayumi Kato | Noriko Aida | Kenji Kurosawa

https://doi.org/10.1038/s10038-024-01244-7 Actions

Mutations in the glucocerebrosidase gene are responsible for Chinese patients with Parkinson’s disease

JOURNAL ARTICLE published February 2015 in Journal of Human Genetics

Authors: Zhe Yu | Ting Wang | Jun Xu | Wei Wang | Guifang Wang | Chao Chen | Lili Zheng | Li Pan | Dianrong Gong | Xueli Li | Huaiqian Qu | Fang Li | Bin Zhang | Weidong Le | Fabin Han

https://doi.org/10.1038/jhg.2014.110 Actions

Molecular pathogenesis of triple-negative breast cancer based on microRNA expression signatures: antitumor miR-204-5p targets AP1S3

JOURNAL ARTICLE published December 2018 in Journal of Human Genetics

Authors: Hiroko Toda | Sasagu Kurozumi | Yuko Kijima | Tetsuya Idichi | Yoshiaki Shinden | Yasutaka Yamada | Takayuki Arai | Kosei Maemura | Takaaki Fujii | Jun Horiguchi | Shoji Natsugoe | Naohiko Seki

https://doi.org/10.1038/s10038-018-0510-3 Actions

Mitochondrial DNA history of Sri Lankan ethnic people: their relations within the island and with the Indian subcontinental populations

JOURNAL ARTICLE published January 2014 in Journal of Human Genetics

Authors: Lanka Ranaweera | Supannee Kaewsutthi | Aung Win Tun | Hathaichanoke Boonyarit | Samerchai Poolsuwan | Patcharee Lertrit

https://doi.org/10.1038/jhg.2013.112 Actions

Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families

JOURNAL ARTICLE published November 2023 in Journal of Human Genetics

Authors: Xin Zhang | Yanzhao Guo | Lu Xu | Yilong Wang | Guoxia Sheng | Feng Gao | Zhefeng Yuan

https://doi.org/10.1038/s10038-023-01184-8 Actions

Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set

JOURNAL ARTICLE published October 2016 in Journal of Human Genetics

Authors: Masahiro Kanai | Toshihiro Tanaka | Yukinori Okada

https://doi.org/10.1038/jhg.2016.72 Actions

The genomic landscape of human immune-mediated diseases

JOURNAL ARTICLE published November 2015 in Journal of Human Genetics

Authors: Xin Wu | Haiyan Chen | Huji Xu

https://doi.org/10.1038/jhg.2015.99 Actions

Claudin-7 indirectly regulates the integrin/FAK signaling pathway in human colon cancer tissue

JOURNAL ARTICLE published August 2016 in Journal of Human Genetics

Authors: Lei Ding | Liyong Wang | Leiming Sui | Huanying Zhao | Xiaoxue Xu | Tengyan Li | Xiaonan Wang | Wenjing Li | Ping Zhou | Lu Kong

https://doi.org/10.1038/jhg.2016.35 Actions

Ethnic differences in allele frequency of autoimmune-disease-associated SNPs

JOURNAL ARTICLE published May 2005 in Journal of Human Genetics

Authors: Mikako Mori | Ryo Yamada | Kyoko Kobayashi | Reimi Kawaida | Kazuhiko Yamamoto

https://doi.org/10.1007/s10038-005-0246-8 Actions

Identification of susceptibility locus shared by IgA nephropathy and inflammatory bowel disease in a Chinese Han population

JOURNAL ARTICLE published March 2020 in Journal of Human Genetics

Research funded by Guangzhou Municipal Science and Technology Project (No. 2016201604030005,No. 201807010002,No. 201704020167) | National Natural Science Foundation of China (No. 81770661; No. 81570599)

Authors: Dianchun Shi | Zhong Zhong | Meng Wang | Lu Cai | Dongying Fu | Yuan Peng | Lin Guo | Haiping Mao | Xueqing Yu | Ming Li

https://doi.org/10.1038/s10038-019-0699-9 Actions

Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non-APOE-ε4 carriers

JOURNAL ARTICLE published April 2008 in Journal of Human Genetics

Authors: Nuripa Jenishbekovna Aidaralieva | Kouzin Kamino | Ryo Kimura | Mitsuko Yamamoto | Takeshi Morihara | Hiroaki Kazui | Ryota Hashimoto | Toshihisa Tanaka | Takashi Kudo | Tomoyuki Kida | Jun-Ichiro Okuda | Takeshi Uema | Hidehisa Yamagata | Tetsuro Miki | Hiroyasu Akatsu | Kenji Kosaka | Masatoshi Takeda

https://doi.org/10.1007/s10038-008-0251-9 Actions

mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice

JOURNAL ARTICLE published November 2009 in Journal of Human Genetics

Authors: Mariola Kulawiec | Kjerstin M Owens | Keshav K Singh

https://doi.org/10.1038/jhg.2009.89 Actions

A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient

JOURNAL ARTICLE published October 2022 in Journal of Human Genetics

Authors: Heng Gu | Zhuang-Zhuang Yuan | Xiao-Hui Xie | Yi-Feng Yang | Zhi-Ping Tan

https://doi.org/10.1038/s10038-022-01053-w Actions

Single-nucleotide polymorphisms in the promoter of the CDK5 gene and lung cancer risk in a Korean population

JOURNAL ARTICLE published May 2009 in Journal of Human Genetics

Authors: Hyo Seon Choi | Youngin Lee | Kyong Hwa Park | Jae Sook Sung | Jong-Eun Lee | Eun-Soon Shin | Jeong-Seon Ryu | Yeul Hong Kim

https://doi.org/10.1038/jhg.2009.29 Actions

Correction: A novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome

JOURNAL ARTICLE published December 2018 in Journal of Human Genetics

Authors: Xiaoting Lou | Hao Shi | Shumeng Wen | Yuanyuan Li | Xiujuan Wei | Jie Xie | Lin Ma | Yanling Yang | Hezhi Fang | Jianxin Lyu

https://doi.org/10.1038/s10038-018-0517-9 Actions

Complete genome sequencing and variant analysis of a Pakistani individual

JOURNAL ARTICLE published September 2013 in Journal of Human Genetics

Authors: Muhammad Kamran Azim | Chuanchun Yang | Zhixiang Yan | Muhammad Iqbal Choudhary | Asifullah Khan | Xiao Sun | Ran Li | Huma Asif | Sana Sharif | Yong Zhang

https://doi.org/10.1038/jhg.2013.72 Actions

A novel human muscle cell model of Duchenne muscular dystrophy created by CRISPR/Cas9 and evaluation of antisense-mediated exon skipping

JOURNAL ARTICLE published March 2018 in Journal of Human Genetics

Authors: Takenori Shimo | Kana Hosoki | Yusuke Nakatsuji | Toshifumi Yokota | Satoshi Obika

https://doi.org/10.1038/s10038-017-0400-0 Actions

Response to genetic manipulations of liver angiotensinogen in the physiological range

JOURNAL ARTICLE published September 2008 in Journal of Human Genetics

Authors: Barbu Gociman | Andreas Rohrwasser | Elaine Hillas | Tong Cheng | Grant Hunter | Jennifer Hunter | Paul Lott | Smith Monson | Jian Ying | J. M. Lalouel

https://doi.org/10.1007/s10038-008-0311-1 Actions

Structural study on mutant α-l-iduronidases: insight into mucopolysaccharidosis type I

JOURNAL ARTICLE published May 2008 in Journal of Human Genetics

Authors: Kanako Sugawara | Seiji Saito | Kazuki Ohno | Torayuki Okuyama | Hitoshi Sakuraba

https://doi.org/10.1007/s10038-008-0272-4 Actions

Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons

JOURNAL ARTICLE published July 2007 in Journal of Human Genetics

Authors: Zhujun Zhang | Yasuaki Habara | Atsushi Nishiyama | Yoshinobu Oyazato | Mariko Yagi | Yasuhiro Takeshima | Masafumi Matsuo

https://doi.org/10.1007/s10038-007-0163-0 Actions
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