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

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

CIROZ在脊椎动物祖先中并非必需,但对人类的左右模式形成至关重要。

Emmanuelle Szenker-Ravi ,Tim Ott ,Amirah Yusof ,Maya Chopra ,Muznah Khatoo ,Beatrice Pak ,Wei Xuan Goh ,Anja Beckers ,Angela F Brady ,Lisa J Ewans ,Nabila Djaziri ,Naif A M Almontashiri ,Malak Ali Alghamdi ,Essa Alharby ,Majed Dasouki ,Lindsay Romo ,Wen-Hann Tan ,Sateesh Maddirevula ,Fowzan S Alkuraya ,Jessica L Giordano ,Anna Alkelai ,Ronald J Wapner ,Karen Stals ,Majid Alfadhel ,Abdulrahman Faiz Alswaid ,Susanne Bogusch ,Anna Schafer-Kosulya ,Sebastian Vogel ,Philipp Vick ,Axel Schweickert ,Matthew Wakeling ,Anne Moreau de Bellaing ,Aisha M Alshamsi ,Damien Sanlaville ,Hamdi Mbarek ,Chadi Saad ,Sian Ellard ,Frank Eisenhaber ,Kornelia Tripolszki ,Christian Beetz ,Peter Bauer ,Achim Gossler ,Birgit Eisenhaber ,Martin Blum ,Patrice Bouvagnet ,Aida Bertoli-Avella ,Jeanne Amiel ,Christopher T Gordon ,Bruno Reversade

The transcription factor RttA contributes to sterol regulation and azole resistance in Aspergillus fumigatus

转录因子RttA参与烟曲霉的甾醇调节和唑类耐药性

Birštonas, Lukas; Hortschansky, Peter; Bauer, Ingo; Alcanzo, Ervin M; Kühbacher, Alexander; Mertens, Birte; Müller, Christoph; Brakhage, Axel A; Gsaller, Fabio

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

NAA60双等位基因变异导致N端乙酰化能力受损,从而引起常染色体隐性遗传性原发性家族性脑钙化。

Viorica Chelban #,Henriette Aksnes #,Reza Maroofian,Lauren C LaMonica,Luis Seabra,Anette Siggervåg,Perrine Devic,Hanan E Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M Natalia Zanetti,Rauan Kaiyrzhanov  ,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V Schottlaender    ,Heba Morsy  ,Annarita Scardamaglia,Ambreen Tariq,Alistair T Pagnamenta,Ajia Pennavaria,Liv S Krogstad,Åse K Bekkelund,Alessia Caiella,Nina Glomnes  ,Kirsten M Brønstad,Sandrine Tury,Andrés Moreno De Luca  0 ,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim    ,Benjamin Cretin    ,Barbara Vona  ,Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller    ,Sahar I Da'as  ,Khalid A Fakhro    ,Alicia Gómez-Pascual,Juan A Botía,Nicholas W Wood  0 ,Rita Horvath,Andreas M Ernst  ,James E Rothman  ,Meriel McEntagart,Yanick J Crow  ,Fowzan S Alkuraya  ,Gaël Nicolas  ; SYNaPS Study Group; Thomas Arnesen  ,Henry Houlden

RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity

RTN2 缺乏导致常染色体隐性远端运动神经病,伴有下肢痉挛

Reza Maroofian, Payam Sarraf, Thomas J O'Brien, Mona Kamel, Arman Cakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khu

Phosphoramide Hydrogels as Biodegradable Matrices for Inkjet Printing and Their Nano-Hydroxyapatite Composites

磷酰胺水凝胶作为喷墨打印的可生物降解基质及其纳米羟基磷灰石复合材料

Mahsa Mostofizadeh, Michael Kainz, Farzaneh Alihosseini, Stephan Haudum, Mostafa Youssefi, Peter Bauer, Iurii Gnatiuk, Oliver Brüggemann, Katja Zembsch, Uwe Rinner, Catarina Coelho, Elena Guillén, Ian Teasdale

Lower free triiodothyronine (fT3) levels in cirrhosis are linked to systemic inflammation, higher risk of acute-on-chronic liver failure, and mortality

肝硬化患者体内游离三碘甲状腺原氨酸 (fT3) 水平降低与全身炎症、急性加重型慢性肝衰竭风险增加以及死亡率升高有关。

Hartl, Lukas; Simbrunner, Benedikt; Jachs, Mathias; Wolf, Peter; Bauer, David Josef Maria; Scheiner, Bernhard; Balcar, Lorenz; Semmler, Georg; Schwarz, Michael; Marculescu, Rodrig; Dannenberg, Varius; Trauner, Michael; Mandorfer, Mattias; Reiberger, Thomas

Exploring the Molecular Tapestry: Organ-Specific Peptide and Protein Ultrafiltrates and Their Role in Therapeutics

探索分子图景:器官特异性肽和蛋白质超滤液及其在治疗中的作用

Slivka, Jakub Peter; Bauer, Chris; Younsi, Alexander; Wong, Michelle B F; Chan, Mike K S; Skutella, Thomas

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

EZH1基因的功能获得性变异和功能丧失性变异会破坏神经发生,并导致显性和隐性神经发育障碍。

Carolina Gracia-Diaz,Yijing Zhou,Qian Yang #,Reza Maroofian #,Paula Espana-Bonilla #,Chul-Hwan Lee,Shuo Zhang,Natàlia Padilla,Raquel Fueyo,Elisa A Waxman,Sunyimeng Lei,Garrett Otrimski,Dong Li,Sarah E Sheppard,Paul Mark,Margaret H Harr,Hakon Hakonarson,Lance Rodan ,Adam Jackson ,Pradeep Vasudevan,Corrina Powel,Shehla Mohammed,Sateesh Maddirevula,Hamad Alzaidan,Eissa A Faqeih,Stephanie Efthymiou,Valentina Turchetti,Fatima Rahman , Shazia Maqbool , Vincenzo Salpietro,Shahnaz H Ibrahim , Gabriella di Rosa , Henry Houlden,Maha Nasser Alharbi , Nouriya Abbas Al-Sannaa , Peter Bauer , Giovanni Zifarelli , Conchi Estaras , Anna C E Hurst , Michelle L Thompson , Anna Chassevent , Constance L Smith-Hicks  ,Xavier de la Cruz  ,Alexander M Holtz,Houda Zghal Elloumi , M J Hajianpour , Claudine Rieubland , Dominique Braun , Siddharth Banka    ; Genomic England Research Consortium; Deborah L French,Elizabeth A Heller,Murielle Saade,Hongjun Song,Guo-Li Ming,Fowzan S Alkuraya  ,Pankaj B Agrawal  ,Danny Reinberg , Elizabeth J Bhoj,Marian A Martínez-Balbás,Naiara Akizu

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease

线粒体 DNA 异质体可区分 PINK1/PRKN 相关帕金森病的疾病表现

Joanne Trinh, Andrew A Hicks, Inke R König, Sylvie Delcambre, Theresa Lüth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilariño-Güell, Faycel Hentati, Elisabeth L Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostić, Anthony E Lang, Norbert Brüggemann, Peter P Pramstaller, Iren

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

AXIN1 双等位基因变异破坏 C 端 DIX 结构域,导致颅骨干骨硬化和髋关节发育不良

Paulien Terhal, Anton J Venhuizen, Davor Lessel, Wen-Hann Tan, Abdulrahman Alswaid, Regina Grün, Hamad I Alzaidan, Simon von Kroge, Nada Ragab, Maja Hempel, Christian Kubisch, Eduardo Novais, Alba Cristobal, Kornelia Tripolszki, Peter Bauer, Björn Fischer-Zirnsak, Rutger A J Nievelstein, Atty van Di