日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Polygenic modifiers impact penetrance and expressivity in telomere biology disorders

多基因修饰因子影响端粒生物学疾病的穿透率和表达度

Poeschla, Michael; Arora, Uma P; Walne, Amanda; McReynolds, Lisa J; Niewisch, Marena R; Giri, Neelam; Zeigler, Logan P; Gusev, Alexander; Machiela, Mitchell J; Tummala, Hemanth; Savage, Sharon A; Sankaran, Vijay G

A single cysteine residue in vimentin regulates long non-coding RNA XIST to suppress epithelial-mesenchymal transition and stemness in breast cancer

波形蛋白中的单个半胱氨酸残基调控长链非编码RNA XIST,从而抑制乳腺癌的上皮-间质转化和干性。

Usman, Saima; Yeudall, William Andrew; Teh, Muy-Teck; Ghloum, Fatemah; Tummala, Hemanth; Waseem, Ahmad

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

生殖系胸苷酸合成酶缺乏会影响核苷酸代谢并导致先天性角化不良

Tummala, Hemanth; Walne, Amanda; Buccafusca, Roberto; Alnajar, Jenna; Szabo, Anita; Robinson, Peter; McConkie-Rosell, Allyn; Wilson, Meredith; Crowley, Suzanne; Kinsler, Veronica; Ewins, Anna-Maria; Madapura, Pradeepa M; Patel, Manthan; Pontikos, Nikolas; Codd, Veryan; Vulliamy, Tom; Dokal, Inderjeet

Inherited bone marrow failure in the pediatric patient

儿童患者的遗传性骨髓衰竭

Dokal, Inderjeet; Tummala, Hemanth; Vulliamy, Tom

Acquired somatic variants in inherited myeloid malignancies

遗传性髓系恶性肿瘤的获得性体细胞变异

Armes, Hannah; Rio-Machin, Ana; Krizsán, Szilvia; Bödör, Csaba; Kaya, Fadimana; Bewicke-Copley, Findlay; Alnajar, Jenna; Walne, Amanda; Péterffy, Borbála; Tummala, Hemanth; Rouault-Pierre, Kevin; Dokal, Inderjeet; Vulliamy, Tom; Fitzgibbon, Jude

Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes

遗传性骨髓衰竭亚型的全血转录组全基因组分析

Walne, Amanda J; Vulliamy, Tom; Bewicke-Copley, Findlay; Wang, Jun; Alnajar, Jenna; Bridger, Maria G; Ma, Bernard; Tummala, Hemanth; Dokal, Inderjeet

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes

端粒蛋白TPP1的纯合OB折叠变异与先天性角化不良样表型相关

Tummala, Hemanth; Collopy, Laura C; Walne, Amanda J; Ellison, Alicia; Cardoso, Shirleny; Aksu, Tekin; Yarali, Nese; Aslan, Deniz; Fikret Akata, Rüştü; Teo, Juliana; Songyang, Zhou; Pontikos, Nikolas; Fitzgibbon, Jude; Tomita, Kazunori; Vulliamy, Tom; Dokal, Inderjeet

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants

基因组不稳定是携带双等位基因ERCC6L2变异的骨髓衰竭患者转录缺陷的结果。

Tummala, Hemanth; Dokal, Arran D; Walne, Amanda; Ellison, Alicia; Cardoso, Shirleny; Amirthasigamanipillai, Saranha; Kirwan, Michael; Browne, Isobel; Sidhu, Jasmin K; Rajeeve, Vinothini; Rio-Machin, Ana; Seraihi, Ahad Al; Duncombe, Andrew S; Jenner, Matthew; Smith, Owen P; Enright, Helen; Norton, Alice; Aksu, Tekin; Özbek, Namık Yaşar; Pontikos, Nikolas; Cutillas, Pedro; Dokal, Inderjeet; Vulliamy, Tom

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease

扩大桡尺骨融合相关血液疾病的表型和遗传谱

Walne, Amanda; Tummala, Hemanth; Ellison, Alicia; Cardoso, Shirleny; Sidhu, Jasmin; Sciuccati, Gabriela; Vulliamy, Tom; Dokal, Inderjeet

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

骨髓增生异常综合征和肝病扩大了RTEL1相关端粒病的谱系。

Cardoso, Shirleny R; Ellison, Alicia C M; Walne, Amanda J; Cassiman, David; Raghavan, Manoj; Kishore, Bhuvan; Ancliff, Philip; Rodríguez-Vigil, Carmen; Dobbels, Bieke; Rio-Machin, Ana; Al Seraihi, Ahad F H; Pontikos, Nikolas; Tummala, Hemanth; Vulliamy, Tom; Dokal, Inderjeet