Results 51 to 60 of about 15,819 (153)
De Sanctis–Cacchione syndrome: A case report and literature review
International Journal of Women's Dermatology, 2015 De Sanctis–Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pigmentosum (XP). These patients with XP are of short stature, have mental disabilities, and develop progressive neurologic degeneration because of a severe ...
Ziba Rahbar, MD, MPH, Mohsen Naraghi
doaj +1 more source
Role of Sirtuins in the Hallmarks of Skin Aging
Aging Cell, Volume 25, Issue 11, November 2026.In the skin, sirtuins support the integrity of the epidermis and dermis and protect the skin from environmental insults by maintaining cellular homeostasis. Sirtuins decline with chronological age, contributing to the biological hallmarks of aging, with increasing evidence emerging of their specific roles in skin aging.
Rishabh Kala +10 more
wiley +1 more source
Xeroderma pigmentosum: a case report and review of the literature [PDF]
, 2010 Inherited molecular defects in nucleotide excision repair genes cause the autosomal recessive condition xeroderma pigmentosum. Xeroderma pigmentosum is characterized by photo-hyper- sensitivity of sun-exposed tissues, and by a several thousand-fold ...
Feller, L +5 more
core +1 more source
BASAL CELL CARCINOMA IN XERODERMA PIGMENTOSUM IN AN 18.YEAR.OLD MALE
Majalah Kedokteran Andalas, 2014 Xeroderma pigmentosum (XP) is a rare autosomalrecessiye disorder that occurs becauseof inactivation of the xeroderma pigmentosum protein, which is an important DNA damagerecognition protein involved in DNA nucleotide excision repair (NER).
Satya Wydya Yenny, Frien Refla Syarif
doaj +1 more source
Rare Variants in PFIC‐Related Genes Among Adults With Intrahepatic Cholestasis
Hepatology Research, Volume 56, Issue 11, Page 1749-1753, November 2026.ABSTRACT Aim Biallelic pathogenic variants in progressive familial intrahepatic cholestasis (PFIC)‐related genes cause severe pediatric cholestasis. However, the clinical significance of heterozygous variants in adult intrahepatic cholestasis remains unclear.
Shunji Hirose +9 more
wiley +1 more source
, 2000 Review on Xeroderma pigmentosum, with data on clinics, and the genes ...
Viguié, C
core +1 more source
CASE REPORT: TWO SIBLINGS WITH XERODERMA PIGMENTOSUM, AFAR, ETHIOPIA [PDF]
, 2021 Xeroderma Pigmentosum is one of the rare autosomal-recessive skin lesions with a broad variety of clinical mani-festations that lead to cell hypersensitivity to ultraviolet radiation.
Gidey, Abel
core
MicrobiologyOpen, Volume 15, Issue 5, October 2026.Malassezia (predominantly M. globosa) colonizes BCC tissues. In vitro fungal stimulation accelerates epithelial proliferation and modulates inflammatory/oxidative stress cascades potentially relevant to BCC biology. ABSTRACT Basal cell carcinoma (BCC) is the most common malignant skin tumor.
Xiaolei Zhu +5 more
wiley +1 more source
, 1888 UEBER XERODERMA PIGMENTOSUM Ueber Xeroderma pigmentosum ([1]) Title page ([1]) Dedication ([3]) Chapter ([5]) Vita. ( - ) Thesen. ( -
Barckmann, Carl
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Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.A Chinese patient with Rothmund‐Thomson syndrome type 2 carried compound heterozygous RECQL4 variants, including a novel frameshift variant c.2053del (p.Asp685Thrfs*5). The patient also presented with gynecomastia and low testosterone, a previously unreported endocrine phenotype.
Yuanyuan Wang +4 more
wiley +1 more source