Results 91 to 100 of about 25,996 (221)

The endoplasmic reticulum membrane protein complex subunit Emc6 is essential for rhodopsin localization and photoreceptor cell survival

Genes and Diseases
The endoplasmic reticulum (ER) membrane protein complex (EMC) is responsible for monitoring the biogenesis and synthetic quality of membrane proteins with tail-anchored or multiple transmembrane domains. The EMC subunit EMC6 is one of the core members of
Kuanxiang Sun, Lu Liu, Xiaoyan Jiang, Heting Wang, Lin Wang, Yeming Yang, Wenjing Liu, Lin Zhang, Xiaohui Zhao, Xianjun Zhu   +9 more
doaj   +1 more source

Visual space constructed by saccade motor maps

Frontiers in Human Neuroscience, 2016
How visual space is represented in the brain is an open question in neuroscience. Embodiment theories propose that spatial perception is structured by neural motor maps.
Eckart Zimmermann, Markus Lappe
doaj   +1 more source

Peptide‐directed nanovehicles enabling tumor‐selective ROS amplification and antitumor immunity

VIEW, EarlyView.
Cancer cells are vulnerable to oxidative stress, yet exploit immune tolerance to escape destruction. In contrast, their metabolic profile is markedly altered to support rapid proliferation, accompanied by elevated production of reactive oxygen species (ROS).
Manuela Calin, Galyna Bila, Ileana Manduteanu, Rostyslav Bilyy   +3 more
wiley   +1 more source

Divergent Paths: A Comprehensive Review of Mechanisms and Clinical Implications in Atopic Dermatitis and Psoriasis

Allergy, EarlyView.
ABSTRACT Atopic dermatitis and psoriasis are two common cutaneous chronic inflammatory diseases. Although they share similar immunological mechanisms, their clinical implications in the patient are different. This review compares both diseases from different points of view such as genetics, natural history, triggers of disease, and skin barrier defects
Tali Czarnowicki, Kazunari Sugita, Zenas Yiu, Sandra Díez‐Ribas, Irene Garcia‐Jimenez, Emma Guttman‐Yassky, Luis F. Santamaria‐Babí   +6 more
wiley   +1 more source

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

Emerin mislocalization during chromatin bridge resolution can drive prostate cancer cell invasiveness in a collagen-rich microenvironment

Experimental and Molecular Medicine
Micronuclei (MN) can form through many mechanisms, including the breakage of aberrant cytokinetic chromatin bridges. The frequent observation of MN in tumors suggests that they might not merely be passive elements but could instead play active roles in ...
Marta Popęda, Kamil Kowalski, Tomasz Wenta, Galina V. Beznoussenko, Michał Rychłowski, Alexander Mironov, Zeno Lavagnino, Sara Barozzi, Julia Richert, Rebecca Bertolio, Kamil Myszczyński, Jolanta Szade, Michał Bieńkowski, Kevin Miszewski, Marcin Matuszewski, Anna J. Żaczek, Luca Braga, Giannino Del Sal, Natalia Bednarz-Knoll, Paolo Maiuri, Paulina Nastały   +20 more
doaj   +1 more source

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Associations between TMEM106B C‐terminal fragment aggregation, age, and TDP‐43 or tau pathology

Brain Pathology, EarlyView.
TMEM106B C‐terminal fragment (CTF) aggregation represents an age‐associated, common, diffuse phenomenon emerging after midlife with a weak association with TDP‐43 or tau pathology. These findings suggest that TMEM106B fibrillization may define a distinct axis of protein aggregation in the aging human brain. Abstract Transmembrane protein 106B (TMEM106B)
Albert Acewicz, Sylwia Tarka, Michał Grzegorczyk, Radosław Rzepliński, Teresa Wierzba‐Bobrowicz, Tomasz Stępień   +5 more
wiley   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source