Research Papers

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Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review.
Pi X; Zhang Q; Wang X; Jiang F.
Mol Genet Genomic Med (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
MAL expression downregulation through suppressive H3K27me3 marks at the promoter in HPV16-related cervical cancers is p…
Sinha A; Ghosh A; Ghosh A; Mathai S; Bhaumik J; Mukhopadhyay A; Maitra A; Biswas NK; Sengupta S.
Clin Epigenetics (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.
Pacot L; Girish M; Knight S; Spurlock G; Varghese V; Ye M; Thomas N; Pasmant E; Upadhyaya M.
BMC Med Genomics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
A 14-gene B-cell immune signature in early-stage triple-negative breast cancer (TNBC): a pooled analysis of seven studi…
Conte B; Brasó-Maristany F; Hernández AR; Pascual T; Villacampa G; Schettini F; Vidal Losada MJ; Seguí E; Angelats L; Garcia-Fructuoso I; Gómez-Bravo R; Lorman-Carbó N; Paré L; Marín-Aguilera M; Martínez-Sáez O; Adamo B; Sanfeliu E; Fratini B; Falato C; Chic N; Vivancos A; Villagrasa P; Staaf J; Parker JS; Perou CM; Prat A.
EBioMedicine (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
Pancancer analysis of the prognostic and immunological role of FANCD2: a potential target for carcinogenesis and surviv…
Zhao Z; Wang R; Wang R; Song J; Ma F; Pan H; Gao C; Wang D; Chen X; Fan X.
BMC Med Genomics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literatur…
Cavalli A; Caraffi SG; Rizzi S; Trimarchi G; Napoli M; Frattini D; Spagnoli C; Garavelli L; Fusco C.
BMC Med Genomics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Integration analysis of lncRNA and mRNA expression data identifies DOCK4 as a potential biomarker for elderly osteoporo…
Wu C; Wang C; Xiao B; Li S; Sheng Y; Wang Q; Tao J; Zhang Y; Jiang X.
BMC Med Genomics (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
Transcriptomic analysis delineates preterm prelabor rupture of membranes from preterm labor in preterm fetal membranes.
Underhill LA; Mennella JM; Tollefson GA; Uzun A; Lechner BE.
BMC Med Genomics (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
Swimming exercise reverses transcriptomic changes in aging mouse lens.
Ye L; Yuan J; Zhu S; Ji S; Dai J.
BMC Med Genomics (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
Adipocyte‑rich microenvironment promotes chemoresistance via upregulation of peroxisome proliferator‑activated receptor…
Chen S; Liu Z; Wu H; Wang B; Ouyang Y; Liu J; Zheng X; Zhang H; Li X; Feng X; Li Y; Shen Y; Zhang H; Xiao B; Yu C; Deng W.
Int J Mol Med (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Cytoplasmic localization of SETDB1‑induced Warburg effect via c‑MYC‑LDHA axis enhances migration and invasion in breast…
Yang W; Wei Y; Wang T; Xu Y; Jin X; Qian H; Yang S; He S.
Int J Mol Med (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
Contribution of HLA class I (A, B, C) and HLA class II (DRB1, DQA1, DQB1) alleles and haplotypes in exploring ethnic or…
Ben Bnina A; Yessine A; El Bahri Y; Chouchene S; Ben Lazrek N; Mimouna M; Mlika Z; Messoudi A; Zellama D; Sahtout W; Bouatay A.
BMC Med Genomics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
DNA methylation may partly explain psychotropic drug-induced metabolic side effects: results from a prospective 1-month…
Dubath C; Porcu E; Delacrétaz A; Grosu C; Laaboub N; Piras M; von Gunten A; Conus P; Plessen KJ; Kutalik Z; Eap CB.
Clin Epigenetics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
The influence of Nrf2 gene promoter methylation on gene expression and oxidative stress parameters in preeclampsia.
Zakeri S; Rahimi Z; Rezvani N; Vaisi-Raygani A; Alibakhshi R; Zakeri S; Yari K.
BMC Med Genomics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Characterization of a human H3N8 influenza virus.
Gu C; Fan S; Dahn R; Babujee L; Chiba S; Guan L; Maemura T; Pattinson D; Neumann G; Kawaoka Y.
EBioMedicine (Unknown)
Published: 2024
4/6 Transparent
Code Funding Declared
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
Sun J; Yang N; Xu Z; Cheng H; Zhang X.
Mol Genet Genomic Med (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Association of Y chromosome AZF region microdeletions with recurrent miscarriage in Iranian couples: A case-control stu…
Pazoki N; Salehi M; Angaji SA; Abdollahpour-Alitappeh M.
Mol Genet Genomic Med (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates i…
Liu Y; Zhang Y; Wang J; Song S; Wang H; Meng Q; Zhan Y; Xu Y; Sun L.
Mol Genet Genomic Med (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.
Li H; Qi Z; Xie L; Hao C; Li W.
Mol Genet Genomic Med (Unknown)
Published: 2024
2/6 Transparent
A novel gain-of-function STAT3 variant in infantile-onset diabetes associated with multiorgan autoimmunity.
Zhou Q; Chen D; Yu J; Zheng B; Zhou W; Jia Z; Zhang A; Gu W.
Mol Genet Genomic Med (Unknown)
Published: 2024
1/6 Transparent
Epigenetic aging in older people living with HIV in Eswatini: a pilot study of HIV and lifestyle factors and epigenetic…
Dye CK; Wu H; Jackson GL; Kidane A; Nkambule R; Lukhele NG; Malinga BP; Chekenyere R; El-Sadr WM; Baccarelli AA; Harris TG.
Clin Epigenetics (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
STING signalling compensates for low tumour mutation burden to drive anti-tumour immunity.
Tan J; Egelston CA; Guo W; Stark JM; Lee PP.
EBioMedicine (Unknown)
Published: 2024
5/6 Transparent
Data Code Funding Declared
Type 1 early infantile epileptic encephalopathy: A case report and literature review.
Zaker E; Nouri N; Movahedinia M; Dadbinpour A; Vahidi Mehrjardi MY.
Mol Genet Genomic Med (Unknown)
Published: 2024
3/6 Transparent
Funding Declared
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.
Zhang R; Lang Y; Shi X; Zhang Y; Liu X; Pan F; Qiao D; Teng X; Shao L.
Mol Genet Genomic Med (Unknown)
Published: 2024
4/6 Transparent
Data Funding Declared
Abnormal DNA methylation within HPA-axis genes years after paediatric critical illness.
Coppens G; Vanhorebeek I; Güiza F; Derese I; Wouters PJ; Téblick A; Dulfer K; Joosten KF; Verbruggen SC; Van den Berghe G.
Clin Epigenetics (Unknown)
Published: 2024
4/6 Transparent
Registered Funding Declared