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

Accumulation of free nuclei denotes defective phagocytic capacity of macrophages and occurs after infection with Listeria monocytogenes and lymphocytic choriomeningitis virus

游离细胞核的积累表明巨噬细胞的吞噬能力缺陷,这种情况常见于单核细胞增生李斯特菌和淋巴细胞性脉络丛脑膜炎病毒感染后。

Christ, Theresa Charlotte; Friebus-Kardash, Justa; Bergerhausen, Michael; Elwy, Abdelrahman; Abdelrahman, Hossam; Holnsteiner, Lisa; Tertel, Tobias; Wiebeck, Elisa; Geuer, Ilka; Gerbaulet, Alexander; Lang, Philipp Alexander; Lang, Karl Sebastian

Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy

CLN5基因中复发性罕见变异c.415T>C p.Phe139Leu与隐性遗传性黄斑营养不良的关联

Magliyah, Moustafa S; Geuer, Sinje; Alsalamah, Abrar K; Lenzner, Steffen; Drasdo, Mojgan; Schatz, Patrik

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

AFF3降解子区域的变异与智力障碍、肢体中段发育不良、马蹄肾和癫痫性脑病相关。

Norine Voisin ,Rhonda E Schnur ,Sofia Douzgou ,Susan M Hiatt ,Cecilie F Rustad ,Natasha J Brown ,Dawn L Earl ,Boris Keren ,Olga Levchenko ,Sinje Geuer ,Sarah Verheyen ,Diana Johnson ,Yuri A Zarate ,Miroslava Hančárová ,David J Amor ,E Martina Bebin ,Jasmin Blatterer ,Alfredo Brusco ,Gerarda Cappuccio ,Joel Charrow ,Nicolas Chatron ,Gregory M Cooper ,Thomas Courtin ,Elena Dadali ,Julien Delafontaine ,Ennio Del Giudice ,Martine Doco ,Ganka Douglas ,Astrid Eisenkölbl ,Tara Funari ,Giuliana Giannuzzi ,Ursula Gruber-Sedlmayr ,Nicolas Guex ,Delphine Heron ,Øystein L Holla ,Anna C E Hurst ,Jane Juusola ,David Kronn ,Alexander Lavrov ,Crystle Lee ,Séverine Lorrain ,Else Merckoll ,Anna Mikhaleva ,Jennifer Norman ,Sylvain Pradervand ,Darina Prchalová ,Lindsay Rhodes ,Victoria R Sanders ,Zdeněk Sedláček ,Heidelis A Seebacher ,Elizabeth A Sellars ,Fabio Sirchia ,Toshiki Takenouchi ,Akemi J Tanaka ,Heidi Taska-Tench ,Elin Tønne ,Kristian Tveten ,Giuseppina Vitiello ,Markéta Vlčková ,Tomoko Uehara ,Caroline Nava ,Binnaz Yalcin ,Kenjiro Kosaki ,Dian Donnai ,Stefan Mundlos ,Nicola Brunetti-Pierri ,Wendy K Chung ,Alexandre Reymond

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

CNOT1基因的新生突变会导致神经发育迟缓。CNOT1是CCR4-NOT复合物的核心成分,参与基因表达以及RNA和蛋白质的稳定性。

Vissers, Lisenka E L M; Kalvakuri, Sreehari; de Boer, Elke; Geuer, Sinje; Oud, Machteld; van Outersterp, Inge; Kwint, Michael; Witmond, Melde; Kersten, Simone; Polla, Daniel L; Weijers, Dilys; Begtrup, Amber; McWalter, Kirsty; Ruiz, Anna; Gabau, Elisabeth; Morton, Jenny E V; Griffith, Christopher; Weiss, Karin; Gamble, Candace; Bartley, James; Vernon, Hilary J; Brunet, Kendra; Ruivenkamp, Claudia; Kant, Sarina G; Kruszka, Paul; Larson, Austin; Afenjar, Alexandra; Billette de Villemeur, Thierry; Nugent, Kimberly; Raymond, F Lucy; Venselaar, Hanka; Demurger, Florence; Soler-Alfonso, Claudia; Li, Dong; Bhoj, Elizabeth; Hayes, Ian; Hamilton, Nina Powell; Ahmad, Ayesha; Fisher, Rachel; van den Born, Myrthe; Willems, Marjolaine; Sorlin, Arthur; Delanne, Julian; Moutton, Sebastien; Christophe, Philippe; Mau-Them, Frederic Tran; Vitobello, Antonio; Goel, Himanshu; Massingham, Lauren; Phornphutkul, Chanika; Schwab, Jennifer; Keren, Boris; Charles, Perrine; Vreeburg, Maaike; De Simone, Lenika; Hoganson, George; Iascone, Maria; Milani, Donatella; Evenepoel, Lucie; Revencu, Nicole; Ward, D Isum; Burns, Kaitlyn; Krantz, Ian; Raible, Sarah E; Murrell, Jill R; Wood, Kathleen; Cho, Megan T; van Bokhoven, Hans; Muenke, Maximilian; Kleefstra, Tjitske; Bodmer, Rolf; de Brouwer, Arjan P M

ECM alterations in Fndc3a (Fibronectin Domain Containing Protein 3A) deficient zebrafish cause temporal fin development and regeneration defects

缺乏 Fndc3a(纤维连接蛋白结构域蛋白 3A)的斑马鱼的 ECM 改变会导致颞鳍发育和再生缺陷

Daniel Liedtke, Melanie Orth, Michelle Meissler, Sinje Geuer, Sabine Knaup, Isabell Köblitz, Eva Klopocki

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

角鲨烯合酶缺乏症:胆固醇生物合成缺陷的临床、生化和分子特征

Coman, David; Vissers, Lisenka E L M; Riley, Lisa G; Kwint, Michael P; Hauck, Roxanna; Koster, Janet; Geuer, Sinje; Hopkins, Sarah; Hallinan, Barbra; Sweetman, Larry; Engelke, Udo F H; Burrow, T Andrew; Cardinal, John; McGill, James; Inwood, Anita; Gurnsey, Christine; Waterham, Hans R; Christodoulou, John; Wevers, Ron A; Pitt, James

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

PPM1D基因最后一个和倒数第二个外显子中的新生截断突变会导致智力障碍综合征

Jansen, Sandra; Geuer, Sinje; Pfundt, Rolph; Brough, Rachel; Ghongane, Priyanka; Herkert, Johanna C; Marco, Elysa J; Willemsen, Marjolein H; Kleefstra, Tjitske; Hannibal, Mark; Shieh, Joseph T; Lynch, Sally Ann; Flinter, Frances; FitzPatrick, David R; Gardham, Alice; Bernhard, Birgitta; Ragge, Nicola; Newbury-Ecob, Ruth; Bernier, Raphael; Kvarnung, Malin; Magnusson, E A Helena; Wessels, Marja W; van Slegtenhorst, Marjon A; Monaghan, Kristin G; de Vries, Petra; Veltman, Joris A; Lord, Christopher J; Vissers, Lisenka E L M; de Vries, Bert B A

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

上游 SLC2A1 翻译起始导致 GLUT1 缺乏综合征

Michèl A Willemsen, Lisenka Elm Vissers, Marcel M Verbeek, Bregje W van Bon, Sinje Geuer, Christian Gilissen, Joerg Klepper, Michael P Kwint, Wilhelmina G Leen, Maartje Pennings, Ron A Wevers, Joris A Veltman, Erik-Jan Kamsteeg