Results 211 to 220 of about 35,482 (247)

Monogenic Human Skin Disorders

Dermatology, 2014
Human genodermatoses represent a broad and partly confusing spectrum of countless rare diseases with confluent and overlapping phenotypes often impeding a precise diagnosis in an affected individual. High-throughput sequencing techniques have expedited the identification of novel genes and have dramatically simplified the establishment of genetic ...
Lemke JR, Kernland-Lang K, Hörtnagel K, Itin P   +3 more
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Subtyping monogenic disorders: Huntington disease

2023
Huntington disease is a highly disabling neurodegenerative disease characterized by psychiatric, cognitive, and motor deficits. The causal genetic mutation in huntingtin (Htt, also known as IT15), located on chromosome 4p16.3, leads to an expansion of a triplet coding for polyglutamine.
Andrea, Sturchio, Andrew P, Duker, Ignacio, Muñoz-Sanjuan, Alberto J, Espay   +3 more
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Maximizing insights from monogenic immune disorders

Current Opinion in Immunology, 2021
Monogenic immune disorders provide unprecedented insights into the consequences of disrupting single genes in humans, thereby informing our understanding of fundamental immune function and disease. Genomics has accelerated monogenic disease discovery while also revealing the complexity of human disease, where several factors beyond the genome can ...
Anis Barmada, Anjali Ramaswamy, Carrie L Lucas   +2 more
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Noninvasive prenatal diagnosis of monogenic disorders

Expert Opinion on Biological Therapy, 2012
Since the presence of circulating cell-free fetal DNA (ccffDNA) in maternal peripheral blood was demonstrated in 1997, great efforts have been done in order to use this source of fetal material for noninvasive prenatal diagnosis. The advantage that it represents is avoiding the obstetric invasive procedures required for conventional prenatal diagnosis ...
Rodríguez de Alba, M, Bustamante Aragonés, A, Perlado, S, Trujillo Tiebas, MJ, Díaz-Recasens, J, Plaza Arranz, J, Ramos, C   +6 more
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Monogenic inborn errors of immunity in autoimmune disorders

Immunologic Research, 2023
To estimate the prevalence of monogenic inborn errors of immunity in patients with autoimmune diseases (AID), the study included 56 subjects (male:female ratio: 1.07) with mean age of onset of autoimmunity 7 years (4 months-46 years). 21/56 had polyautoimmunity. 5/56 patients met the JMF criteria for PID.
Iyengar Vaishnavi Venkatachari, Akshaya Chougule, Vijaya Gowri, Prasad Taur, Minnie Bodhanwala, Shakuntala Prabhu, Manisha Madkaikar, Mukesh Desai   +7 more
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Gene therapy of monogenic and cardiovascular disorders

Expert Opinion on Biological Therapy, 2003
The concept of gene therapy involves the introduction of genetic material into patient cells to cure or alleviate the symptoms of a disease by complementing a damaged gene or by giving the cell a new function. The belief that gene therapy would soon reach the clinic has been widely spread, frequently resulting in controversies when these expectations ...
Pontus, Blomberg, C I Edvard, Smith
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Monogenic disorders of the TNF signalling pathway

Nature Reviews Rheumatology
TNF is a central regulator of immune responses, inflammation and programmed cell death, and has an essential role in maintaining tissue and immune homeostasis. Abnormal TNF signalling is implicated in a broad spectrum of physiological and pathological processes, as exemplified by monogenic disorders arising from dysregulation of core components of the ...
Najoua Lalaoui, Seth L. Masters
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Monogenic disorders of the IRF transcription factors

Journal of Experimental Medicine
Interferon regulatory factors (IRFs) are a family of transcription factors essential for immune system development and host defense. Beyond immunity, IRF6 plays an indispensable role in craniofacial development. Inborn errors of IRFs (IE-IRFs) are a group of rare monogenic disorders caused by damaging variants in the IRF family of genes. In this review,
Mattison P. Stojcic, Pariya Yousefi, Catherine M. Biggs, Stuart E. Turvey   +3 more
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An additional monogenic disorder that masquerades as multiple sclerosis

American Journal of Medical Genetics, 1996
In their comprehensive differential diagnosis of monogenic diseases that can mimic multiple sclerosis, Natowicz and Bejjani did not include a newly recognized monogenic disorder known under the acronym of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy); this disorder can mimic MS clinically and ...
K, Vahedi, E, Tournier-Lasserve, K, Vahedi, H, Chabriat, M G, Bousser   +4 more
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Epilepsies Due to Monogenic Disorders of Metabolism

2009
info:eu-repo/semantics ...
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