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Genetic Etiology and Clinical Consequences of Cone Disorders [PDF]
, 2011 Hereditary retinal disorders constitute a large heterogeneous group of diseases in which the photoreceptors are primarily aff ected. When cone cells are aff ected, one cannot see details or perceive color.
Thiadens, A.A.H.J. (Alberta)
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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 +4 more
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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 +6 more
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Revealing the molecular signatures of host-pathogen interactions. [PDF]
, 2011 Advances in sequencing technology and genome-wide association studies are now revealing the complex interactions between hosts and pathogen through genomic variation signatures, which arise from evolutionary co ...
C Herdtweck +53 more
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X-linked agammaglobulinemia with bronchiectasis and infection： a case report [PDF]
Zhenduanxue lilun yu shijianX-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
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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
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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 +8 more
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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 +5 more
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