Results 21 to 30 of about 944,231 (329)

X-linked agammaglobulinemia with bronchiectasis and infection： a case report [PDF]

Zhenduanxue lilun yu shijian
X-linked agammaglobulinemia (XLA) is a rare disease characterized by severe hypogammaglobulinemia, antibody deficiency, and recurrent infections. This study reports a case of X-linked agammaglobulinemia combined with bronchiectasis and infection.
LIN Jiayuan, CHENG Qijian, CHEN Ling
doaj   +1 more source

Immune-mediated inflammatory diseases with chronic excess of serum interleukin-18

Frontiers in Immunology, 2022
Review: Interleukin-18 (IL-18) is a proinflammatory cytokine that promotes various innate immune processes related to infection, inflammation, and autoimmunity.
Hanae Miyazawa, Taizo Wada
doaj   +1 more source

Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection

Scientific Reports, 2022
Autologous cell replacement therapy for inherited metabolic disorders requires the correction of the underlying genetic mutation in patient’s cells. An unexplored alternative for females affected from X-linked diseases is the clonal selection of cells ...
Ramon Santamaria, Maria Ballester, Guillem Garcia-Llorens, Francisco Martinez, Marina Blazquez, Carmen Ribes-Koninckx, Jose V. Castell, Torsten Wuestefeld, Roque Bort   +8 more
doaj   +1 more source

On a break with the X: the role of repair of double-stranded DNA breaks in X-linked disease [PDF]

, 2012
The problem of managing free reactive DNA ends in eukaryotic cells has resulted in the development of a number of mechanisms in order to ensure that free ends are rendered non-reactive, or that the double-strand DNA breaks generating the free ends are ...
Cecceroni, Lucia, De Caris, Laura, Tummala, Hemanth   +2 more
core   +4 more sources

Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1

Frontiers in Pediatrics, 2021
Herein, we present a rare case of co-occurring Duchenne muscular dystrophy (DMD) and frontometaphyseal dysplasia 1 (FMD1), two different X-linked diseases, in a 7-year-old boy.
Jaewon Kim, Dong-Woo Lee, Ja-Hyun Jang, Myungshin Kim, Jisook Yim, Dae-Hyun Jang   +5 more
doaj   +1 more source

PRENATAL DIAGNOSIS [PDF]

Romanian Journal of Pediatrics, 2009
Another reproductive option that is now available is prenatal diagnosis. By utilizing increasingly sophisticated technology, many congenital malformations and genetic defects can now be diagnosed prior to twenty weeks of pregnancy. The authors present:
Valeriu Popescu, Andrei Zamfirescu
doaj   +1 more source

Influence of sex differences on microRNA gene regulation in disease. [PDF]

, 2014
Sexual dimorphism is observed in most human diseases. The difference in the physiology and genetics between sexes can contribute tremendously to the disease prevalence, severity, and outcome.
Eghbali, Mansoureh, Sharma, Salil
core   +1 more source

A new role for human dyskerin in vesicular trafficking [PDF]

, 2017
Dyskerin is an essential, conserved, multifunctional protein found in the nucleolus, whose loss of function causes the rare genetic diseases X-linked dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Abbas, Alawi, Angrisani, Angrisani, Campa, Carlile, Cohen, Conomos, Conte, Coué, Dang, Fiorentino, Fong, Giordano, Goldenring, Granger, Grant, Hehnly, Heiss, Hotulainen, Hutagalung, IJzendoorn, Jack, Jiang, Jinn, Karijolich, Kobayashi, Lin, Liu, Mayle, O'Brien, Riccardo, Ruggero, Sieron, Silva, Stedingk, Stenmark, Taulli, Tollervey, Tortoriello, Turano, Turano, Ullrich, Vasquez, Vicidomini, Vicinanza, Welz, Wiederschain, Yaghmai, Yoon, Yoon, Zhang   +51 more
core   +1 more source

The Infectious Disease Ontology in the Age of COVID-19 [PDF]

, 2021
The Infectious Disease Ontology (IDO) is a suite of interoperable ontology modules that aims to provide coverage of all aspects of the infectious disease domain, including biomedical research, clinical care, and public health.
Babcock, Shane, Beverley, John, Cowell, Lindsay G., Smith, Barry   +3 more
core   +1 more source

Modeling lethal X-linked genetic disorders in pigs with ensured fertility

Proceedings of the National Academy of Sciences of the United States of America, 2018
Significance The development of therapies for rare and intractable genetic disorders represents a significant unmet medical need. Disease model pigs characterized by physiological, anatomical, and pathogenetic similarities to humans allow translational ...
H. Matsunari, Masahito Watanabe, K. Nakano, S. Enosawa, K. Umeyama, A. Uchikura, S. Yashima, Toru Fukuda, N. Klymiuk, M. Kurome, B. Kessler, A. Wuensch, V. Zakhartchenko, E. Wolf, Y. Hanazono, Masaki Nagaya, A. Umezawa, H. Nakauchi, H. Nagashima   +18 more
semanticscholar   +1 more source