Results 11 to 20 of about 79,932 (302)

Monogenic hypertension.

open access: yesActa bio-medica : Atenei Parmensis, 2019
Hypertension is a significant public health problem. Thirty percent of cases are caused by a single genetic mutation. Hypertension is the predominant and usually the only manifestation in monogenic hypertension Monogenic hypertension may involve mineralcorticoid-dependent or -independent increase in Na+ transport. Diagnosis is based on routine physical
Precone V.   +10 more
openaire   +5 more sources

Monogenic Diabetes due to ABCC8/KCNJ11 Mutation: Case Study and Review of Literature [PDF]

open access: yes, 2020
Monogenic diabetes arises due to mutation in a single-gene and is recognized by their striking familial inheritance pattern. This form of diabetes is inherited in an autosomal dominant or recessive fashion, unlike polygenic Type 1 (autoimmune) or type 2 ...
Wei, C, Bano, G, Karunakaran, V
core   +3 more sources

Monogenic Causes of Strokes [PDF]

open access: yesGenes, 2021
Strokes are the main cause of death and long-term disability worldwide. A stroke is a heterogeneous multi-factorial condition, caused by a combination of environmental and genetic factors. Monogenic disorders account for about 1% to 5% of all stroke cases.
Justyna Chojdak-Łukasiewicz   +2 more
openaire   +3 more sources

Starting with the differential: Representation of monogenic functions by polynomials of non-monogenic variables [PDF]

open access: yes, 2023
This paper deals with different power series expansions of generalized holomorphic (monogenic) functions in the setting of Clifford Analysis. Our main concern are generalized Appell polynomials as a special class of monogenic polynomials which have been ...
Cação, I.   +3 more
core   +2 more sources

Monogenic Cyclotomic compositions [PDF]

open access: yesKodai Mathematical Journal, 2021
Let $m$ and $n$ be positive integers, and let $p$ be a prime. Let $T(x)=Φ_{p^m}\left(Φ_{2^n}(x)\right)$, where $Φ_k(x)$ is the cyclotomic polynomial of index $k$. In this article, we prove that $T(x)$ is irreducible over $\mathbb Q$ and that \[\left\{1,θ,θ^2,\ldots,θ^{2^{n-1}p^{m-1}(p-1)-1}\right\}\] is a basis for the ring of integers of $\mathbb Q(θ)$
Harrington, Joshua, Jones, Lenny
openaire   +3 more sources

Monogenic Autoimmunity [PDF]

open access: yesAnnual Review of Immunology, 2012
Monogenic autoimmune syndromes provide a rare yet powerful glimpse into the fundamental mechanisms of immunologic tolerance. Such syndromes reveal not only the contribution of an individual breakpoint in tolerance but also patterns in the pathogenesis of autoimmunity.
Mickie H, Cheng, Mark S, Anderson
openaire   +2 more sources

The scheme of monogenic generators II: local monogenicity and twists

open access: yesResearch in Number Theory, 2023
30 pages, comments welcome; some results strengthened over last revision.
Sarah Arpin   +3 more
openaire   +4 more sources

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis

open access: yesFrontiers in Immunology, 2020
Background: More than 50 different monogenic disorders have been identified as directly causing inflammatory bowel diseases, typically manifesting in the first years of life.
Iddo Vardi   +36 more
doaj   +1 more source

Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants

open access: yesClinical Case Reports, 2023
Key Clinical Message We present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the CUBN gene. The CUBN‐related phenotype appears to be dependent upon both variant type and the
Vivian Shi   +5 more
doaj   +1 more source

Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans

open access: yesFrontiers in Immunology, 2022
Most B cells produced in the bone marrow have some level of autoreactivity. Despite efforts of central tolerance to eliminate these cells, many escape to periphery, where in healthy individuals, they are rendered functionally non-responsive to ...
Isaac T. W. Harley   +7 more
doaj   +1 more source

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