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

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

CRISPR激活揭示了先天性多发性关节挛缩症胎儿中内含子NEB变异体的剪接原性6

Misceo, Doriana; Terkelsen, Thorkild; Bøen Keim, Sara Margrete; Bjørnstad, Pål Marius; Strand, Mari Elen; Orszagh, Vivian Cecilie; Jensen, Uffe Birk; Frengen, Eirik

In BTK, phosphorylated Y223 in the SH3 domain mirrors catalytic activity, but does not influence biological function

在 BTK 中,SH3 结构域中的 Y223 磷酸化反映了催化活性,但不影响生物功能

H Yesid Estupiñán, Thibault Bouderlique, Chenfei He, Anna Berglöf, Andrea Cappelleri, Nicolai Frengen, Rula Zain, Mikael C I Karlsson, Robert Månsson, C I Edvard Smith

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

NAV3 是一种神经元形态发生蛋白,其变异会导致智力障碍、发育迟缓和小头畸形

Ghaffar Amama, Akhter Tehmeena, Strømme Petter, Misceo Doriana, Khan Amjad, Frengen Eirik, Umair Muhammad, Isidor Bertrand, Cogné Benjamin, Khan Asma A, Bruel Ange-Line, Sorlin Arthur, Kuentz Paul, Chiaverini Christine, Innes A Micheil, Zech Michael, Baláž Marek, Havrankova Petra, Jech Robert, Ahmed Zubair M, Riazuddin Sheikh, Riazuddin Saima

Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome

双等位基因 NDUFA4 缺失导致 Leigh 综合征患者出现线粒体复合物 IV 缺陷

Doriana Misceo, Petter Strømme, Fatemeh Bitarafan, Maninder Singh Chawla, Ying Sheng, Sandra Monica Bach de Courtade, Lars Eide, Eirik Frengen

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

纯合 POLR1A 变异会导致脑白质营养不良并影响蛋白质稳态

Doriana Misceo, Lisa Lirussi, Petter Strømme, Dulika Sumathipala, Andrea Guerin, Nicole I Wolf, Andres Server, Maria Stensland, Bjørn Dalhus, Aslıhan Tolun, Hester Y Kroes, Tuula A Nyman, Hilde L Nilsen, Eirik Frengen

T-RHEX-RNAseq - a tagmentation-based, rRNA blocked, random hexamer primed RNAseq method for generating stranded RNAseq libraries directly from very low numbers of lysed cells

T-RHEX-RNAseq - 一种基于标记、rRNA 阻断、随机六聚体引发的 RNAseq 方法,可直接从极少量的裂解细胞中生成链状 RNAseq 文库

Charlotte Gustafsson, Julia Hauenstein, Nicolai Frengen, Aleksandra Krstic, Sidinh Luc, Robert Månsson

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome

CENPF基因中新的功能丧失变异,包括Strømme综合征患者中的大片段基因内缺失

Misceo, Doriana; Senaratne, Lokuliyanage Dona Samudita; Mero, Inger-Lise; Sundaram, Arvind Y M; Bjørnstad, Pål Marius; Szczałuba, Krzysztof; Gasperowicz, Piotr; Kamien, Benjamin; Nedregaard, Bård; Holmgren, Asbjørn; Strømme, Petter; Frengen, Eirik

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

ZBTB11功能障碍:脑部异常谱、生化特征和细胞后果

Dulika Sumathipala ,Petter Strømme ,Zohreh Fattahi ,Torben Lüders ,Ying Sheng ,Kimia Kahrizi ,Ingunn Holm Einarsen ,Jennifer L Sloan ,Hossein Najmabadi ,Lambert van den Heuvel ,Ron A Wevers ,Sergio Guerrero-Castillo ,Lars Mørkrid ,Vassili Valayannopoulos ,Paul Hoff Backe ,Charles P Venditti ,Clara D van Karnebeek ,Hilde Nilsen ,Eirik Frengen ,Doriana Misceo

Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma

利用全基因组测序技术解析多发性骨髓瘤中的常见和特有结构变异

Peña-Pérez, Lucía; Frengen, Nicolai; Hauenstein, Julia; Gran, Charlotte; Gustafsson, Charlotte; Eisfeldt, Jesper; Kierczak, Marcin; Taborsak-Lines, Fanny; Olsen, Remi-André; Wallblom, Ann; Krstic, Aleksandra; Ewels, Philip; Lindstrand, Anna; Månsson, Robert

CD49b identifies functionally and epigenetically distinct subsets of lineage-biased hematopoietic stem cells

CD49b 识别功能和表观遗传上不同的谱系偏向造血干细胞亚群

Ece Somuncular, Julia Hauenstein, Prajakta Khalkar, Anne-Sofie Johansson, Özge Dumral, Nicolai S Frengen, Charlotte Gustafsson, Giuseppe Mocci, Tsu-Yi Su, Hugo Brouwer, Christine L Trautmann, Michael Vanlandewijck, Stuart H Orkin, Robert Månsson, Sidinh Luc