Results 171 to 180 of about 28,925 (227)

RETRACTION: HDAC-Inhibitor (S)-8 Disrupts HDAC6-PP1 Complex Prompting A375 Melanoma Cell Growth Arrest and Apoptosis. [PDF]

J Cell Mol Med
europepmc   +1 more source

Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study. [PDF]

Sex Dev
Poyrazoglu S, Aghayev A, Toksoy G, Karaman B, Aslanger AD, Avci S, Altunoglu U, Karaman V, Yildiz M, Abali ZY, Bas F, Basaran S, Darendeliler F, Uyguner ZO.   +13 more
europepmc   +1 more source

Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity. [PDF]

NPJ Genom Med
Sangermano R, Fujinami K, Byeon SH, Place EM, Navarro J, Valensi J, Khateb S, Banin E, Condroyer C, DiTroia S, Sharon D, Zeitz C, Audo I, Bujakowska KM, Han J.   +14 more
europepmc   +1 more source

Variants in the DNAH11 gene responsible for primary ciliary dyskinesia or probably atypical primary ciliary dyskinesia presenting left-right asymmetry disorder. [PDF]

PLoS One
Zhao K, Yuan L, Xiong Y, Xia H, Deng S, Chen M, Liao Y, Wang J, Deng H.   +8 more
europepmc   +1 more source

The adeno-associated virus Rep proteins target PP4:SMEK1 by preventing substrate recruitment. [PDF]

PLoS Pathog
Vandewinkel B, Torrekens S, Claes Z, Bollen M, Henckaerts E.   +4 more
europepmc   +1 more source

Tribomechanical Behaviour and Elasto-Plastic Contact Response of 3D-Printed Versus Conventional Polymer Inserts in Robotic Gripping Interfaces. [PDF]

Polymers (Basel)
Păduraru GI, Călin A, Stoica M, Prisecaru DA, Seiciu PL.   +4 more
europepmc   +1 more source

Correction: Castagna et al. Sodium Chloride Cotransporter in Hypertension. <i>Biomedicines</i> 2024, <i>12</i>, 2580. [PDF]

Biomedicines
Castagna A, Mango G, Martinelli N, Marzano L, Moruzzi S, Friso S, Pizzolo F.   +6 more
europepmc   +1 more source

Unraveling the Genetic Heterogeneity of Isolated Growth Hormone Deficiency: Insights from the GENHYPOPIT Cohort.

Horm Res Paediatr
Aouchiche K, Romanet P, Charnay T, Barlier A, Roche C, Grunenwald S, Le Collen L, Porques Bordes V, Barat P, Castinetti F, Brue T, Reynaud R, Saveanu A.   +12 more
europepmc   +1 more source

Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review. [PDF]

Invest Ophthalmol Vis Sci
Liu S, Li S, Wang Y, Sun W, Hejtmancik JF, Zhang Q.   +5 more
europepmc   +1 more source