Pediatr Dermatol
November 2023
We used the Psoriasis Caregiver Impact Scale to explore the quality of life (QoL) of parents/caregivers of children with psoriasis. We found that the QoL of parents of children with psoriasis is negatively affected in numerous domains including family and social life, emotional health, work, activities, and finances.
View Article and Find Full Text PDFRPA has been shown to protect single-stranded DNA (ssDNA) intermediates from instability and breakage. RPA binds ssDNA with sub-nanomolar affinity, yet dynamic turnover is required for downstream ssDNA transactions. How ultrahigh-affinity binding and dynamic turnover are achieved simultaneously is not well understood.
View Article and Find Full Text PDFThe paradigm that checkpoints halt cell cycle progression for genome repair has been challenged by the recent discovery of heritable DNA lesions escaping checkpoint control. How such inherited lesions affect genome function and integrity is not well understood. Here, we identify a new class of heritable DNA lesions, which is marked by replication protein A (RPA), a protein primarily known for shielding single-stranded DNA in S/G2.
View Article and Find Full Text PDFGMS Hyg Infect Control
February 2021
Background/objective: There are few studies examining pediatric scarring alopecia. The objective of this study is to characterize the clinicopathologic findings, comorbidities, and treatment outcomes of pediatric patients with scarring alopecia.
Methods: Retrospective review of patients under age 18 diagnosed with scarring alopecia at Mayo Clinic from 01/01/1992 through 02/05/2019.
Clin Cosmet Investig Dermatol
December 2020
Frontal fibrosing alopecia (FFA) is a primary lymphocytic cicatricial alopecia that is often considered a clinical variant of lichen planopilaris (LPP) due to their shared histopathologic features. FFA is characterized by the recession of the frontal, temporal, or frontotemporal hairline; the clinical pattern is distinct and usually includes eyebrow hair loss, as well as other associated symptoms. Pruritus, facial papules, eyelash loss, body hair involvement, and trichodynia may also occur in addition to the frontotemporal recession and eyebrow loss classically seen.
View Article and Find Full Text PDFChromatin structure is dynamically reorganized at multiple levels in response to DNA double-strand breaks (DSBs). Yet, how the different steps of chromatin reorganization are coordinated in space and time to differentially regulate DNA repair pathways is insufficiently understood. Here, we identify the Chromodomain Helicase DNA Binding Protein 7 (CHD7), which is frequently mutated in CHARGE syndrome, as an integral component of the non-homologous end-joining (NHEJ) DSB repair pathway.
View Article and Find Full Text PDFBackground: Lichen planopilaris (LPP) is a scarring alopecia rarely described in men.
Objective: To investigate the clinical and histopathologic features of LPP in men.
Methods: We performed a retrospective cohort study of male patients with LPP seen at Mayo Clinic between 1992 and 2016.
Protein ADP-ribosylation is a reversible post-translational modification that regulates important cellular functions. The identification of modified proteins has proven challenging and has mainly been achieved via enrichment methodologies. Random mutagenesis was used here to develop an engineered Af1521 ADP-ribose binding macro domain protein with 1000-fold increased affinity towards ADP-ribose.
View Article and Find Full Text PDFBackground: Current understanding about health care in the gender diverse population is limited by the lack of community-based, longitudinal data, especially in the USA. We sought to characterize a community-based cohort of transgender individuals including demographics, gender identities, social characteristics, psychiatric and medical conditions, and medical therapy for gender dysphoria/incongruence.
Patients And Methods: We performed a retrospective chart review of gender diverse residents of Olmsted County, Minnesota, who sought gender-specific healthcare from January 1, 1974, through December 31, 2015, using an infrastructure that links medical records of Olmsted County residents from multiple institutions.
PARP inhibitors (PARPi) cause synthetic lethality in BRCA-deficient tumors. Whether specific vulnerabilities to PARPi exist beyond BRCA mutations and related defects in homology-directed repair (HDR) is not well understood. Here, we identify the ubiquitin E3 ligase TRIP12 as negative regulator of PARPi sensitivity.
View Article and Find Full Text PDFObjective: To characterize the clinicopathologic findings, comorbidities, and treatment outcomes of women with lichen planopilaris (LPP).
Method: In this retrospective review of women with LPP at Mayo Clinic from 1992 to 2016, we searched for scarring alopecia in all female patients aged 1 to 100 years from January 1, 1992, through December 31, 2016. Men were excluded from this study to more accurately determine the association of hormonal factors in LPP pathogenesis.
Lack of physician training contributes to health care disparities for transgender people. The limited generalizability and feasibility of published training approaches lessen their utility in lowering barriers for other institutions to adopt similar training. All first-year medical students at the Mayo Clinic Alix School of Medicine (MCASOM) in Minnesota and Arizona received a 1-h lecture introducing key concepts related to transgender people and their health disparities.
View Article and Find Full Text PDFBackground: Cicatricial alopecia is a type of permanent hair loss in which the hair follicle is replaced by scar tissue. Given its relatively low incidence, limited information is available regarding baseline hair characteristics, onset, and other disease-associated factors.
Objective: We sought to further elucidate this information in our lichen planopilaris (LPP) patients.
The DNA replication machinery frequently encounters impediments that slow replication fork progression and threaten timely and error-free replication. The CHK1 protein kinase is essential to deal with replication stress (RS) and ensure genome integrity and cell survival, yet how basal levels and activity of CHK1 are maintained under physiological, unstressed conditions is not well understood. Here, we reveal that CHK1 stability is controlled by its steady-state activity during unchallenged cell proliferation.
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