Results 21 to 30 of about 11,144,186 (305)

Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

BMC Medical Genomics, 2022
Background Founder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some pathogenic variants at a higher carrier rate than the general population, putting them at a higher risk ...
Philippe Pierre Robichaud, Eric P. Allain, Sarah Belbraouet, Claude Bhérer, Jean Mamelona, Jason Harquail, Stéphanie Crapoulet, Nicolas Crapoulet, Mathieu Bélanger, Mouna Ben Amor   +9 more
doaj   +1 more source

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

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

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

Genetic Heterogeneity in Patients with X-Linked Recessive Chronic Granulomatous Disease [PDF]

Pediatric Research, 1992
Genetic heterogeneity in 12 patients from 11 different families with X-linked recessive chronic granulomatous disease was studied by Southern blot analysis using cytochrome b heavy-chain cDNA as a probe. We found the abnormal restriction length fragment patterns of the cytochrome b heavy-chain gene in three families, which were not observed in healthy ...
T, Ariga, M, Nakanishi, K, Tomizawa, S, Imajoh-Ohmi, S, Kanegasaki, Y, Sakiyama, S, Matsumoto   +6 more
openaire   +2 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

A genetic basis for a postmeiotic X versus Y chromosome intragenomic conflict in the mouse. [PDF]

, 2012
Intragenomic conflicts arise when a genetic element favours its own transmission to the detriment of others. Conflicts over sex chromosome transmission are expected to have influenced genome structure, gene regulation, and speciation.
Shantha K. Mahadevaiah (94714), Nabeel A. Affara (135531), Vaiman, Daniel, Julie Cocquet, Nabeel A Affara, Burgoyne, Paul S., Daniel Vaiman, Cocquet, Julie, Affara, Nabeel A., Julie Cocquet (135523), Mahadevaiah, Shantha K., Ellis, Peter J.I., Peter J I Ellis, Shantha K Mahadevaiah, Daniel Vaiman (83223), Paul S. Burgoyne (94717), Peter J. I. Ellis (135526), Paul S Burgoyne   +17 more
core   +1 more source

Genetic lessons learned from X‐linked Mendelian susceptibility to mycobacterial diseases [PDF]

Annals of the New York Academy of Sciences, 2011
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as Mycobacterium bovis Bacille Calmette Guérin (BCG) vaccines and nontuberculous, environmental mycobacteria (EM).
Jacinta, Bustamante, Capucine, Picard, Stéphanie, Boisson-Dupuis, Laurent, Abel, Jean-Laurent, Casanova   +4 more
openaire   +2 more sources

Ethics in pre-ART genetics: a missed X-linked Menkes disease case

Journal of Assisted Reproduction and Genetics, 2023
AbstractAssisted reproductive technology (ART) has experienced dramatic progress over the last 30 years, and gamete donation is routine in fertility clinics. Major advances in genetic diagnostics are part of this development due to the ability to analyze multiple genes or whole genomes fast and to an affordable prize.
A.-M. A. Gerdes, L. Birk Møller, N. Horn   +2 more
openaire   +4 more sources

Mild phenotype in an adult male with X-linked adrenoleukodystrophy – case report [PDF]

, 2015
Key Clinical Message X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of ...
Jørum, Ellen, Wanders, Ronald J. A., Horn, Morten A., Mikaelsen, Karin B. M., Retterstøl, Lars, Ferdinandusse, Sacha, Tallaksen, Chantal M. E., Mellgren, Svein I.   +7 more
core   +1 more source