Skin disorders in Ashkenazi Jews: a review

Barankin, Benjamin; Metelitsa, Andrei I.; Schloss, Eric; Wasel, Norman

doi:10.1111/j.1365-4632.2005.02625.x

Cited by 3 publications

(3 citation statements)

References 63 publications

(55 reference statements)

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“…The activated FANCD2/I (D2/I) complex then translocates to DNA - damage sites and recruits downstream FA effector proteins––including BRCA1 (S), BRCA2 (D1), RAD51 (R), BRIP1 (J), PALB2 (N), RAD51C (O), SLX4 (P), and ERCC4 (Q), plus other DNA repair molecules (such as FAN1) to the lesion site to repair damage. In the FANCM/BS pathway [ 2 ], the FA core complex binds to the BS complex by way of interactions between FANCM-RMI1 and TopoIIIα of the BS complex and translocates to the lesion site. In the FANCD2/ATM pathway [ 3 ], in response to ionizing radiation or ICL-inducing agents, FANCD2 is phosphorylated by ATM and co-localizes with the NMR complex to repair DNA damage or cause S-phase arrest.…”

Section: Fanc Complementation Group Proteins That Cause the Fa Disordmentioning

confidence: 99%

Update of the human and mouse Fanconi anemia genes

Dong¹,

et al. 2015

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Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has been studied for nearly 90 years, only in the last 20 years have increasing numbers of genes been implicated in the pathogenesis associated with this genetic disease. To date, 19 genes have been identified that encode Fanconi anemia complementation group proteins, all of which are named or aliased, using the root symbol “FANC.” Fanconi anemia subtype (FANC) proteins function in a common DNA repair pathway called “the FA pathway,” which is essential for maintaining genomic integrity. The various FANC mutant proteins contribute to distinct steps associated with FA pathogenesis. Herein, we provide a review update of the 19 human FANC and their mouse orthologs, an evolutionary perspective on the FANC genes, and the functional significance of the FA DNA repair pathway in association with clinical disorders. This is an example of a set of genes––known to exist in vertebrates, invertebrates, plants, and yeast––that are grouped together on the basis of shared biochemical and physiological functions, rather than evolutionary phylogeny, and have been named on this basis by the HUGO Gene Nomenclature Committee (HGNC).

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Section: Fanc Complementation Group Proteins That Cause the Fa Disordmentioning

confidence: 99%

Update of the human and mouse Fanconi anemia genes

Dong¹,

et al. 2015

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“…Bloom syndrome, Gaucher's disease, and Kaposi sarcoma Most commonly seen in Ashkenazi Jews. [29] 25. Amicrobial pustulosis of folds Amicrobial pustulosis of folds is a rare manifestation of autoimmune conditions, which on histopathology, reveals spongiform, subcorneal pustulosis associated with mainly neutrophilic dermal infiltrate.…”

Section: Kwashiorkormentioning

confidence: 99%

Quiz questions from skin and systemic diseases

Jagadeesan

Nayak

2022

JSSTD

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“…In most populations the incidence of FA is estimated in 1/ 200 000 but is reported to be higher in Ashkenazi Jews (~1/ 30 000) and Afrikaners (1/22 000) (Whitney et al, 1994;Tipping et al, 2001;Barankin et al, 2005;Mathew, 2006). The frequency of the carrier is 1/181 in North America and 1/91 in Israel (Rosenberg et al, 2011).…”

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confidence: 99%

How I manage patients with Fanconi anaemia

Dufour

2017

Br J Haematol

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Fanconi Anaemia is a rare, genetic heterogeneous multisystem disease that is the most common congenital syndrome of marrow failure. Twenty genes have been reported to cause the disease. Remarkable progress has been made over the last 20 years in the understanding of the genetic and pathophysiological mechanisms. Unfortunately, these advances have not been completely paralleled by advances in medical treatment, where the most important component remains stem cell transplantation. This therapy, although contributing to long-term negative effects, such as increased occurrence of late malignancies, is the only current option capable of prolonging the survival of patients. In spite of relevant recent progress in matched unrelated donor transplants, the largest studies with longer follow-up still show a superiority of matched sibling donor transplants with a success rate, in selected cohorts, of over 90%. This article reviews different aspects of the disease, including genetics, diagnosis and treatment options, with special focus on stem cell transplantation, comprehensive post-diagnosis management, decision-making processes and long-term follow-up.

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Skin disorders in Ashkenazi Jews: a review

Cited by 3 publications

References 63 publications

Update of the human and mouse Fanconi anemia genes

Update of the human and mouse Fanconi anemia genes

Quiz questions from skin and systemic diseases

How I manage patients with Fanconi anaemia

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