Results 51 to 60 of about 618,834 (263)

Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement

Frontiers in Pediatrics, 2023
Inborn errors of immunity associated with atopy (IEIs-A) are a group of inherited monogenic disorders that occur with immune dysregulation and frequent skin involvement.
C. Giancotta, Nicole Colantoni, L. Pacillo, V. Santilli, D. Amodio, E. Manno, N. Cotugno, G. Rotulo, B. Rivalta, A. Finocchi, C. Cancrini, A. Diociaiuti, M. El Hachem, P. Zangari   +13 more
semanticscholar   +1 more source

Practical recommendations for the transition to adulthood for the adolescent with a genetic diagnosis. Special emphasis on inborn errors of metabolism

Translational Science of Rare Diseases, 2019
Taken as a group, genetic disorders affect a significant proportion of the population. Historically thought of as pediatric disorders, inborn errors of metabolism (IEM) are becoming increasingly relevant to the adult clinical provider; given the ...
Mauricio J De Castro, C. Turner, B. Kirmse   +2 more
semanticscholar   +1 more source

Hereditary myopathy with early respiratory failure in China: one case report and literatures review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
Objective To retrospectively analyze the clinical sign and symptom, pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure (HMERF).
LI Ying, QI Xue‑liang, ZHANG Wei, FENG Li‑qun, LIU Guang‑zhi, YUAN Yun   +5 more
doaj   +1 more source

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms

Orphanet Journal of Rare Diseases
Background α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner.
Maryana Marins, Marco Antonio Curiati, Caio Perez Gomes, Renan Paulo Martin, Priscila Nicolicht-Amorim, Joyce Umbelino da Silva Yamamoto, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +8 more
doaj   +1 more source

Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity

Frontiers in Immunology, 2019
The recent report of the International Union of Immunological Societies (IUIS) has provided the categorized list of 354 inborn errors of immunity. We performed a systematic analysis of genes and diseases from the IUIS report with the use of the OMIM ...
Lyubov E. Salnikova, Lyubov E. Salnikova, Lyubov E. Salnikova, Ekaterina V. Chernyshova, Lyudmila A. Anastasevich, Sergey S. Larin   +5 more
doaj   +1 more source

Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases

The FEBS Journal
Dysregulation and hyperactivation of innate immune responses can lead to the onset of systemic autoinflammatory diseases. Monogenic autoinflammatory diseases are caused by inborn genetic errors and based on molecular mechanisms at play, can be divided ...
Laura M Merlo Pich, Athanasios Ziogas, M. Netea   +2 more
semanticscholar   +1 more source

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

Orphanet Journal of Rare Diseases, 2022
Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NBS are limited by suitable biomarkers. Here we
Xinwen Huang, Dingwen Wu, Lin Zhu, Wenjun Wang, Rulai Yang, Jian-bin Yang, Qunyan He, Bingquan Zhu, Ying You, Rui Xiao, Zhengyan Zhao   +10 more
semanticscholar   +1 more source

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, EarlyView.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

A perilous path: the inborn errors of sphingolipid metabolism

Journal of Lipid Research, 2019
The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
Teresa M. Dunn, Cynthia J. Tifft, Richard L. Proia   +2 more
doaj   +1 more source

Homologous expression and purification of human HAX‐1 for structural studies

FEBS Open Bio, EarlyView.
This research protocol provides detailed instructions for cloning, expressing, and purifying large quantities of the intrinsically disordered human HAX‐1 protein, N‐terminally fused to a cleavable superfolder GFP, from mammalian cells. HAX‐1 is predicted to undergo posttranslational modifications and to interact with membranes, various cellular ...
Mariana Grieben
wiley   +1 more source