出生缺陷遗传学研究室
2025-03-17 14:24:01
Leng F, Mei S, Zhou X, Liu X, Yuan Y, Xu W, Hao C, Guo R, Hao C, Li W, Zhang P. DVsc: An Automated Framework for Efficiently Detecting Viral Infection from Single-cell Transcriptomics Data. Genomics Proteomics Bioinformatics. 2024 Jul 3;22(2):qzad007. doi: 10.1093/gpbjnl/qzad007. PMID: 39215426.
Ma J, Hao Z, Zhang Y, Li L, Huang X, Wang Y, Chen L, Yang G, Li W. Physical Contacts Between Mitochondria and WPBs Participate in WPB Maturation. Arterioscler Thromb Vasc Biol. 2024 Jan;44(1):108-123. doi: 10.1161/ATVBAHA.123.319939. Epub 2023 Nov 9. PMID: 37942609.
Hao Z, Wang H, Zhou Z, Yang Q, Zhang B, Ma J, Li W. HPS6 Deficiency Leads to Reduced Vacuolar-Type H+-ATPase and Impaired Biogenesis of Lamellar Bodies in Alveolar Type II Cells. Am J Respir Cell Mol Biol. 2024 Oct;71(4):442-452. doi: 10.1165/rcmb.2022-0492OC. PMID: 38864759.
Hu X, Guo R, Qi Z, Zhang Y, Li W, Hao C. Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population. Clin Chim Acta. 2024 Jul 15;561:119813. doi: 10.1016/j.cca.2024.119813. Epub 2024 Jun 12. PMID: 38876249.
Hu X, Guo R, Hao C, Hao L. Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75. Gene. 2024 Feb 5;894:147985. doi: 10.1016/j.gene.2023.147985. Epub 2023 Nov 11. PMID: 37956963.
Sun Q, Guo J, Zhang Y, Zheng R, He K, Chen Y, Hao C, Xie Z, Wang F. Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics. BMJ Paediatr Open. 2024 May 31;8(1):e002024. doi: 10.1136/bmjpo-2023-002024. PMID: 38823802; PMCID: PMC11149152.
Li H, Qi Z, Xie L, Hao C, Li W. The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants. Mol Genet Genomic Med. 2024 Feb;12(2):e2391. doi: 10.1002/mgg3.2391. PMID: 38407511; PMCID: PMC10844841.
Luo S, Leng F, Zhao H, Li W, Wang Q, Guo J. Differential Analysis of Pathogenic Variants in Thoracic Aortic Aneurysm and Dissection at Different Ages. Genet Test Mol Biomarkers. 2024 Nov;28(11):431-437. doi: 10.1089/gtmb.2024.0139. PMID: 39546729.
王翘楚,郝振华,马静,等. 溶酶体相关细胞器:生物发生与功能[J]. 中国细胞生物学学报,2024,46(1):100-117.
齐展,郭若兰,胡旭昀,等. SIL1基因变异所致常染色体隐性Marinesco-Sjögren综合征2例[J]. 罕见病研究,2024,3(3):358-362.
赵爽,郭若兰,胡旭昀,等. MYH3基因突变的先天性骨骼畸形患儿的遗传学研究[J]. 中国优生与遗传杂志,2024,32(6):1209-1214.
Liu Z, Tan S, Zhou L, Chen L, Liu M, Wang W, Tang Y, Yang Q, Chi S, Jiang P, Zhang Y, Cui Y, Qin J, Hu X, Li S, Liu Q, Chen L, Li S, Burstein E, Li W, Zhang X, Mo X, Jia D. SCGN deficiency is a risk factor for autism spectrum disorder. Signal Transduct Target Ther. 2023 Jan 2;8(1):3. doi: 10.1038/s41392-022-01225-2. PMID: 36588101; PMCID: PMC9806109.
Wang Q, Wang Z, Wang Y, Qi Z, Bai D, Wang C, Chen Y, Xu W, Zhu X, Jeon J, Xiong J, Hao C, Zhu MX, Wei A, Li W. A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation. Nat Commun. 2023 Jan 14;14(1):226. doi: 10.1038/s41467-023-35786-9. PMID: 36641477; PMCID: PMC9840614.
Wu Z, Zhang X, An Y, Ma K, Xue R, Ye G, Du J, Chen Z, Zhu Z, Shi G, Ding X, Wan M, Jiang B, Zhang P, Liu J, Bu P. CLMP is a tumor suppressor that determines all-trans retinoic acid response in colorectal cancer. Dev Cell. 2023 Dec 4;58(23):2684-2699.e6. doi: 10.1016/j.devcel.2023.10.006. Epub 2023 Nov 8. PMID: 37944525.
Mei S, Huang Y, Zhao Y, Zhang X, Zhang P. A pan-cancer blueprint of genomics alterations and transcriptional regulation of Siglecs, and implications in prognosis and immunotherapy responsiveness. Clin Transl Med. 2023 May;13(5):e1262. doi: 10.1002/ctm2.1262. PMID: 37218089; PMCID: PMC10203536.
Yu S, Chen J, Zhao Y, Yan F, Fan Y, Xia X, Shan G, Zhang P, Chen X. Oral-microbiome-derived signatures enable non-invasive diagnosis of laryngeal cancers. J Transl Med. 2023 Jul 5;21(1):438. doi: 10.1186/s12967-023-04285-2. PMID: 37408030; PMCID: PMC10320982.
Zhang P, Zhao Y, Xia X, Mei S, Huang Y, Zhu Y, Yu S, Chen X. Expression of OLR1 gene on tumor-associated macrophages of head and neck squamous cell carcinoma, and its correlation with clinical outcome. Oncoimmunology. 2023 Apr 18;12(1):2203073. doi: 10.1080/2162402X.2023.2203073. PMID: 37089448; PMCID: PMC10120517.
Ji T, Shi Q, Mei S, Xu J, Liang H, Xie L, Ren T, Sun K, Li D, Tang X, Zhang P, Guo W. Integrated analysis of single-cell and bulk RNA sequencing data reveals an immunostimulatory microenvironment in tumor thrombus of osteosarcoma. Oncogenesis. 2023 May 27;12(1):31. doi: 10.1038/s41389-023-00474-2. PMID: 37244923; PMCID: PMC10224931.
Yang X, Xu W, Leng D, Wen Y, Wu L, Li R, Huang J, Bo X, He S. Exploring novel disease-disease associations based on multi-view fusion network. Comput Struct Biotechnol J. 2023 Feb 24;21:1807-1819. doi: 10.1016/j.csbj.2023.02.038. PMID: 36923471; PMCID: PMC10009443.
Wang Y, Li W, Wang Q. Lysosome pH-regulated H+ /K+ switching channel involved in maintaining lysosomal homeostasis. FEBS J. 2023 Oct;290(19):4638-4640. doi: 10.1111/febs.16895. Epub 2023 Jul 11. PMID: 37434434.
Zhang W, Yao Z, Guo R, Cao J, Li W, Hao C, Zhang X. Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine. Orphanet J Rare Dis. 2023 Nov 30;18(1):371. doi: 10.1186/s13023-023-02975-0. PMID: 38037133; PMCID: PMC10691085.
Guo R, Chen Y, Hu X, Qi Z, Guo J, Li Y, Hao C. Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review. BMC Med Genomics. 2023 Oct 13;16(1):245. doi: 10.1186/s12920-023-01662-0. PMID: 37833669; PMCID: PMC10571242.
Guo Q, Xia L, Guo R, Xu W, Zhang Y, Zhao C, Zhang P, Bai T, Ni X, Hao C, Xia K, Li W. Behavioural deficits of autism spectrum disorder and associations with different gene clusters: a study with the whole-genome transmission disequilibrium test. BMJ Paediatr Open. 2023 Jul;7(1):e001930. doi: 10.1136/bmjpo-2023-001930. PMID: 37407249; PMCID: PMC10335436.
Liu X, Xu W, Leng F, Zhang P, Guo R, Zhang Y, Hao C, Ni X, Li W. NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders. BMJ Paediatr Open. 2023 Jul;7(1):e001966. doi: 10.1136/bmjpo-2023-001966. PMID: 37407247; PMCID: PMC10335557.
Wang Q, Zhu MX. NAADP-Dependent TPC Current. Handb Exp Pharmacol. 2023;278:35-56. doi: 10.1007/164_2022_606. PMID: 35902437.
于春蕊,贾丽娟,郝婵娟,等. FHL2基因变异致扩张型心肌病1例并文献回顾 [J]. 中华医学遗传学杂志,2023,40(3):337-343.
张文妍,姚子明,张学军,等. TRPV4基因变异引起先天性骨病遗传学分析[J]. 临床儿科杂志,2023,41(7):530-536.
胡旭昀,郝婵娟. TRPV4基因相关疾病的遗传学诊断与管理[J]. 临床儿科杂志,2023,41(2):86-91.
孙琪青,王芳洁,苏林博,等. 原发性肥厚型心肌病患儿8例的临床表型及遗传学分析[J]. 中华医学遗传学杂志,2023,40(10):1211-1216.
Zhang W, Jin F, Guo R, Qi Z, Wang Y, Li X, Wu Y, Li W, Hu X, Hao C. Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants. Genet Test Mol Biomarkers. 2022 Dec;26(12):573-581. doi: 10.1089/gtmb.2022.0100. PMID: 36577126.
Zhao Y, Chen J, Hao Y, Wang B, Wang Y, Liu Q, Zhao J, Li Y, Wang P, Wang X, Zhang P, Zhang L. Predicting the recurrence of chronic rhinosinusitis with nasal polyps using nasal microbiota. Allergy. 2022 Feb;77(2):540-549. doi: 10.1111/all.15168. Epub 2021 Nov 14. PMID: 34735742.
Yuan X, Zhang P. Revisiting benchmark study for response to methodological critiques of 'Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases'. Brief Bioinform. 2022 Sep 20;23(5):bbac181. doi: 10.1093/bib/bbac181. PMID: 35514206.
Yuan X, Wang J, Dai B, Sun Y, Zhang K, Chen F, Peng Q, Huang Y, Zhang X, Chen J, Xu X, Chuan J, Mu W, Li H, Fang P, Gong Q, Zhang P. Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases. Brief Bioinform. 2022 Mar 10;23(2):bbac019. doi: 10.1093/bib/bbac019. PMID: 35134823; PMCID: PMC8921623.
Xu W, He H, Guo Z, Li W. Evaluation of machine learning models on protein level inference from prioritized RNA features. Brief Bioinform. 2022 May 13;23(3):bbac091. doi: 10.1093/bib/bbac091. PMID: 35352096.
Zhao Y, Mei S, Huang Y, Chen J, Zhang X, Zhang P. Integrative analysis deciphers the heterogeneity of cancer-associated fibroblast and implications on clinical outcomes in ovarian cancers. Comput Struct Biotechnol J. 2022 Nov 14;20:6403-6411. doi: 10.1016/j.csbj.2022.11.025. PMID: 36420154; PMCID: PMC9679440.
Lu J, Ma J, Hao Z, Li W. HPS6 Regulates the Biogenesis of Weibel-Palade Body in Endothelial Cells Through Trafficking v-ATPase to Its Limiting Membrane. Front Cell Dev Biol. 2022 Feb 17;9:743124. doi: 10.3389/fcell.2021.743124. PMID: 35252216; PMCID: PMC8891752.
Wang J, Gong J, Wang Q, Tang T, Li W. VDAC1 negatively regulates melanogenesis through the Ca2+-calcineurin-CRTC1-MITF pathway. Life Sci Alliance. 2022 Jun 1;5(10):e202101350. doi: 10.26508/lsa.202101350. PMID: 35649693; PMCID: PMC9160443.
Hao C, Guo R, Hu X, Qi Z, Guo Q, Liu X, Liu Y, Sun Y, Zhang X, Jin F, Wu X, Cai R, Zeng D,
Hu X, Wang X, Ji X, Li W, Xing Q, Mu L, Jiang X, Yang X, Yang W, Zhang Y, Yin Q, Ni X, Li W. Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China. J Genet Genomics. 2022 Jan;49(1):13-19. doi: 10.1016/j.jgg.2021.08.008. Epub 2021 Aug 30. PMID: 34474183.
Chen Y, Sun Q, Hao C, Guo R, Wang C, Yang W, Zhang Y, Wang F, Li W, Guo J. Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy. Front Med (Lausanne). 2022 Aug 30;9:944950. doi: 10.3389/fmed.2022.944950. PMID: 36111109; PMCID: PMC9468813.
Hao C, Jin F, Hao C, Zhang X, Xie L, Zhang Y, Liu X, Ni X, Li W. Evaluation of the Effects on Uninfected Pregnant Women and Their Pregnancy Outcomes During the COVID-19 Pandemic in Beijing, China. Front Med (Lausanne). 2022 May 11;9:842826. doi: 10.3389/fmed.2022.842826. PMID: 35646987; PMCID: PMC9131041.
Zhang W, Yao Z, Guo R, Li H, Zhao S, Li W, Zhang X, Hao C. Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study. Front Med (Lausanne). 2022 Aug 11;9:941468. doi: 10.3389/fmed.2022.941468. PMID: 36035411; PMCID: PMC9403053.
Huang Q, Yuan Y, Gong J, Zhang T, Qi Z, Yang X, Li W, Wei A. Identification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient. Front Med (Lausanne). 2022 May 6;9:896943. doi: 10.3389/fmed.2022.896943. PMID: 35602484; PMCID: PMC9120966.
Li H, Zhang W, Yao Z, Guo R, Hao C, Zhang X. Genotypes and clinical intervention of patients with neurofibromatosis type 1 associated dystrophic scoliosis. Front Pediatr. 2022 Aug 18;10:918136. doi: 10.3389/fped.2022.918136. PMID: 36061378; PMCID: PMC9434403.
刘玄石,郝婵娟,徐立新,等.基于胎盘基因表达谱研究孕期烟草暴露对孕妇和胎儿的影响[J].中华全科医学, 2022, 20(8):5.
郝婵娟,倪鑫.儿童罕见病诊治现状及展望[J].罕见病研究, 2022, 1(3):4.
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