Results 31 to 40 of about 429,966 (219)

Liver organoids: modelling complexity in homeostasis and disease

FEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

FOXP3+ Treg cells and its gender bias in autoimmune diseases

Frontiers in Immunology, 2015
CD4+CD25+ Regulatory T (Treg) cells play a pivotal role in the maintenance of immune homeostasis, where the X-linked master transcription factor Forkhead box P3 (FOXP3) determines Treg cell development and function.
Jia eNie, Yangyang eLi, Guo Song Zheng, Guo Song Zheng, Andy eTsun, Andy eTsun, Bin eLi   +6 more
doaj   +1 more source

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

HGG Advances, 2021
Summary: The lack of molecular diagnoses in rare genetic diseases can be explained by limitations of current standard genomic technologies. Upcoming long-read techniques have complementary strengths to overcome these limitations, with a particular ...
Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, Ronny Derks, Lonneke Haer-Wigman, Amber den Ouden, Michael Kwint, Luke O’Gorman, Dyon Valkenburg, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Marcel Nelen, Frans P.M. Cremers, Alexander Hoischen, Susanne Roosing   +15 more
doaj   +1 more source

Emerging experimental and computational methods for studying redox‐regulated structural transitions

FEBS Letters, EarlyView.
Redox reactions can reshape proteins and alter how they behave in cells, with important consequences for health and disease. This review explores emerging experimental and computational approaches for discovering these redox‐sensitive protein switches, revealing their structural effects, and predicting their behavior, opening new opportunities to ...
Tasneem Rass, Dana Reichmann, Gábor Erdős   +2 more
wiley   +1 more source

Caso para diagnóstico Case for diagnosis

Anais Brasileiros de Dermatologia, 2009
Queratose folicular espinulosa decalvante é uma genodermatose rara, ligada ao X, caracterizada por hiperqueratose folicular, fotofobia, alopécia cicatricial do couro cabeludo e supercílios. Descreve-se o caso de paciente do sexo feminino, de 25 anos, com
Carine Veloso de Carvalho, Ivander Bastazini Junior, Jaison Antonio Barreto, Isabela de Brito Duarte, Raissa Borém Pimenta de Figueiredo   +4 more
doaj   +1 more source

RNA‐related functions of BRCA2 in transcription, replication, and genome stability

FEBS Letters, EarlyView.
Beyond its role in homologous recombination, BRCA2 regulates R‐loop homeostasis, DNA–RNA hybrid resolution, RNA polymerase II dynamics, and transcriptional activation. Disruption of any of these functions can contribute to genome instability, inflammatory signaling, and tumorigenesis. BRCA2 is a central tumor suppressor protein best known for its roles
Lucia Alvaro‐Aranda, Sreerama Chaitanya Sridhara, Aura Carreira   +2 more
wiley   +1 more source

Advances of gene therapy for primary immunodeficiencies [version 1; referees: 2 approved]

F1000Research, 2016
In the recent past, the gene therapy field has witnessed a remarkable series of successes, many of which have involved primary immunodeficiency diseases, such as X-linked severe combined immunodeficiency, adenosine deaminase deficiency, chronic ...
Fabio Candotti
doaj   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Smaller is better: nanobodies meet NMR

FEBS Letters, EarlyView.
Nanobodies are single‐domain antigen‐binding fragments derived from camelid heavy chain antibodies. Their small size, high stability, and exceptional specificity make nanobodies uniquely useful probes for NMR studies of protein dynamics, transient conformational states, and protein–protein interactions.
Oleg Y. Dmitriev
wiley   +1 more source

Blaschko's lines, a pattern expressed in some dermatological illnesses

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2018
With the current advances of genetics several skin conditions with a lineal disposition due to cutaneous mosaicisms have been able to be diagnosed. Although there are five different patterns, Blaschko's lines are the most frequent ones.
Yordania Velázquez-Ávila, Maritza Morales-Solís, Julio Enrique Torres-Reyes   +2 more
doaj