Results 41 to 50 of about 596 (125)

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing

Frontiers in Genetics, 2022
Background: Androgen insensitivity syndrome (AIS) is an X-linked recessive hereditary disease caused due to a reduced or absent function of the androgen receptor (AR) protein encoded by the AR gene (OMIM-Gene# 313,700).
Xiaojing He, Qingya Ma, Qiaoli Zhang, Qiaoli Zhang, Xutao Hong, Xutao Hong, Ming Qi, Ming Qi, Yongkai Li, Xiaodong Li   +9 more
doaj   +1 more source

Proximity Proteomics Maps Candidate Cellular Uptake Pathways for Cell‐Derived Nanovesicles

Small Methods, EarlyView.
TurboID‐based dual‐sided proteomics compares mechanically generated cell‐derived nanovesicles with naturally secreted small extracellular vesicles. Vesicle proteomes define candidate interaction signatures, while recipient‐cell proximity labelling identifies exposure‐associated proteins.
Eisuke Kanao, Ryosuke Mizuta, Saki Tarao, Yukika Hara, Yuka Li, Kazunari Akiyoshi, Yasushi Ishihama, Koshi Imami, Yoshihiro Sasaki   +8 more
wiley   +1 more source

Systematic phenotype and genotype characterization of Moebius syndrome

Genetics in Medicine Open
Purpose: To explore the phenotypic spectrum and genetic etiologies of Moebius Syndrome (MBS), a rare neurological disorder defined by congenital, nonprogressive facial weakness and limitations in ocular abduction.
Bryn D. Webb, Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin, Lori L. Bonnycastle, Wai-Man Chan, Tingfen Yan, Silvio Alessandro Di Gioia, Amy J. Swift, Sarah E. MacKinnon, Darren T. Oystreck, Janet C. Rucker, Tamiesha Frempong, Mary C. Whitman, Edmond J. FitzGibbon, Janice S. Lee, Ke Hao, Caroline Andrews, Monica Erazo, Flavia M. Facio, Sherin Shaaban, Thomas P. Naidich, Peter S. Chines, Tanya J. Lehky, Camilo Toro, Andrea L. Gropman, John A. Butman, Christopher K. Zalewski, Carmen C. Brewer, Audrey Thurm, Joseph Snow, Scott M. Paul, Brian P. Brooks, Carlo Pierpaoli, Caroline D. Robson, David G. Hunter, Francis S. Collins, Ethylin Wang Jabs, Elizabeth C. Engle, Irini Manoli   +41 more
doaj   +1 more source

Last rolls of the yoyo: Assessing the human canonical protein count [version 1; referees: 1 approved, 2 approved with reservations]

F1000Research, 2017
In 2004, when the protein estimate from the finished human genome was only 24,000, the surprise was compounded as reviewed estimates fell to 19,000 by 2014. However, variability in the total canonical protein counts (i.e.
Christopher Southan
doaj   +1 more source

Differential expression of zinc finger CCHC-type superfamily proteins in thyroid carcinoma and their associations with tumor immunity

Thyroid Research, 2023
Background The zinc-finger CCHC-type (ZCCHC) superfamily proteins are characterized by the shared sequence CX2-CX4-HX4-C and thought to own high affinity to single-stranded nucleic acids, particularly RNAs.
Yin Yin, Jing Chen, Qian Chen, Hongyan He, Nannan Zhu, Pengcheng Xia, Chunli Yu, Lingyun Meng   +7 more
doaj   +1 more source

Oxidative stress‐driven metabolic reprogramming defines two subtypes of cutaneous melanoma

VIEW, EarlyView.
Cutaneous melanoma exhibits substantial molecular heterogeneity, and metabolic reprogramming may contribute to differences in tumor behavior and treatment response. In this study, we integrated multi‐omics data from SKCM cohorts to identify two metabolism‐associated subtypes with distinct oxidative stress profiles, immune microenvironments, prognostic ...
Qikun Gao, Ziyi Liu, Ying Xu
wiley   +1 more source

H1.5 enrichment in HGNC gene families.

, 2012
(A) Hierarchical clustering of H1.5 enrichment levels in HGNC gene families is shown as a heat map. Enrichment z-score of each gene family was calculated by averaging the intensities of probes within a gene family region corrected for number of probes ...
Michaela Patterson (78872), Hanna K. A. Mikkola (102967), Jing-Yu Li (139513), William E. Lowry (116165), Siavash K. Kurdistani (139520)   +4 more
core   +1 more source

GeneToList: A Web Application to Assist with Gene Identifiers for the Non-Bioinformatics-Savvy Scientist

Biology, 2022
The increasing incorporation of omics technologies into biomedical research and translational medicine presents challenges to end users of the large and complex datasets that are generated by these methods.
Joshua D. Breidenbach, E. Francis Begue III, David J. Kennedy, Steven T. Haller   +3 more
doaj   +1 more source

Tissue Factor‐High Ovarian Clear Cell Carcinoma Shows Immune‐Cold Features and Preclinical Activity of Tisotumab Vedotin

Cancer Science, EarlyView.
F3/TF‐high ovarian clear cell carcinoma exhibits an immune‐cold phenotype characterized by reduced immune‐cell fractions and attenuated cancer‐cell interferon programs, with frequent B7‐H4 co‐expression. Patient‐derived models show preclinical sensitivity to the TF‐directed antibody–drug conjugate tisotumab vedotin.
Yutaro Mori, Ryo Tamura, Kotaro Takahashi, Kaoru Yamawaki, Tatsuya Ishiguro, Teiichi Motoyama, Koji Okamoto, Kosuke Yoshihara   +7 more
wiley   +1 more source

Physiological and anatomical determinants of placental drug transfer

The Journal of Physiology, EarlyView.
Abstract figure legend Fetal exposure to pharmaceuticals and their subsequent clearance back to the maternal circulation are governed by placental transfer. Passive diffusion down a maternal‐to‐fetal concentration gradient is the primary route of fetal drug exposure, with specific compounds undergoing transporter‐mediated transfer.
Rohan M. Lewis, Anandita Umapathy, Jane K. Cleal, Bram G. Sengers   +3 more
wiley   +1 more source