Results 281 to 290 of about 2,026,261 (344)

First south-north human genome conference

, 1992
V.A. McKusick
openalex   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

SUMMER: an integrated nanopore sequencing pipeline for variants detection and clinical annotation on the human genome. [PDF]

Funct Integr Genomics
Li R, Chu H, Gao K, Luo H, Jiang Y.
europepmc   +1 more source

LOXHD1 and RHOB Expression by Monocytes Predicts Progressive Systemic Sclerosis associated Interstitial Lung Disease

Arthritis Care &Research, Accepted Article.
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla, Robert Lafyatis, Kevin F Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J Kass   +13 more
wiley   +1 more source

Constraining models of dominance for nonsynonymous mutations in the human genome. [PDF]

PLoS Genet
Kyriazis CC, Lohmueller KE.
europepmc   +1 more source

Using a Supramolecular Approach to Engineer Modular Hydrogel Platforms for Culturing Protoplasts – from General Tissue Engineering to Cellular Agriculture

Advanced Biology, EarlyView.
Using supramolecular monomers, various hydrogel culture systems were formulated to culture protoplasts; including 2D, 2.5D, and 3D hydrogels. Depending on the culture platform, bioactive functionalization led to protoplast enlargement (2D and 2.5D) or plasmolysis (3D). This work shows the potential to modularly engineer synthetic platforms for cellular
Maritza M. Rovers, Erik J. Slootweg, Ferdinand C. O. Los, Patricia Y. W. Dankers   +3 more
wiley   +1 more source

O26: Analysis of patient-reported outcomes and a functional assessment from 3-year nitisinone treatment trial in patients with alkaptonuria

Genetics in Medicine Open
Kathryn Spears, Francis Rossignol, Monique Perry, Joy Bryant, William Gahl, Wendy Introne   +5 more
doaj   +1 more source

Adipose Mesenchymal Stem Cell‐Derived Exosomes in Conjunction with Roflumilast Ameliorate Chronic Kidney Disease Through the Modulation of Fibrosis and Inflammation

Advanced Biology, EarlyView.
The novelty of this study showed that the injection of exosomes produced from ADMSCs in combination with Roflumilast poses a more favorable therapeutic outcome for CKD induced by Adriamycin, compared to therapy with exosomes or Roflumilast alone. Roflumilast and exosomes treatment lowered the expression of the apoptotic, fibrotic, and inflammatory ...
Mohamed Ali, Mohamed H. Sherif, Nashwa Barakat, Bassant Yahia, Ahmed A. Shokeir, Basel Sitohy   +5 more
wiley   +1 more source

Replicative DNA polymerase epsilon and delta holoenzymes show wide-ranging inhibition at G-quadruplexes in the human genome. [PDF]

Nucleic Acids Res
Hile SE, Weissensteiner MH, Pytko KG, Dahl J, Kejnovsky E, Kejnovská I, Hedglin M, Georgakopoulos-Soares I, Makova KD, Eckert KA.   +9 more
europepmc   +1 more source

Loss of Stat3 in Prx1+ Progenitors Impairs Molar Root Development

Advanced Biology, EarlyView.
Stat3 critically regulates mandibular first molar and alveolar bone morphogenesis. Conditional ablation of Stat3 disrupts the osteogenic capacity of Prx1+ mesenchymal progenitors, as evidenced across in vivo and in vitro models. Abstract Signal Transducer and Activator of Transcription 3 (Stat3) acts as a central transcriptional modulator coordinating ...
Xin Feng, Wangyu Luo, Yichen Yao, Lichieh Lin, Laiting Chan, Jiarui Lu, Zijing Huang, Jingyi Feng, Le Zhao, Xiaolei Zhang, Liu Yang   +10 more
wiley   +1 more source