Results 51 to 60 of about 11,060 (134)

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

A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome [PDF]

, 2015
Nucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches ...
Aguilera López, Andrés, Herrera Moyano, Emilia, Moriel Carretero, María   +2 more
core   +1 more source

Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]

, 2015
Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo, Domínguez, Anna, Ferrando, Juan, García-Veigas, Javier, Gómez-Flores, Minerva, Mir-Bonafé, José, Ocampo-Candiani, Jorge, Salas-Alanis, Julio C.   +7 more
core   +2 more sources

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

Some problems and errors in cytogenetic biodosimetry [PDF]

, 2016
Human radiosensitivity is a quantitative trait that is generally subject to binomial distribution. Individual radiosensitivity, however, may deviate significantly from the mean (by 2-3 standard deviations).
Kilchevsky, Alexander, Mosse, Irma, Nikolova, Nevena, Zhelev, Nikolai   +3 more
core   +5 more sources

Xeroderma pigmentosum [PDF]

BMJ, 2008
, HADIDA, R D, ESHOUGUES, P, MORERE
  +6 more sources

A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitvity in a xeroderma pigmentosum patient [PDF]

, 2009
This article has been made available through the Brunel Open Access Publishing Fund.Background: Radiotherapy-induced DNA double strand breaks (DSB) are critical cytotoxic lesions.
Abbaszadeh, F, Arlett, CF, Bourton, EC, Clingen, PH, Green, MHL, Makarov, EM, Newbold, RF, Parris, CN, Plowman, PN, Themis, M   +9 more
core  

A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients.

PLoS ONE, 2022
Nucleotide Excision Repair is one of the five DNA repair systems. More than 30 proteins are involved in this process, including the seven XP proteins. When mutated, the genes coding for these proteins are provoking the rare disease Xeroderma Pigmentosum,
Florent Taupelet, Lise-Marie Donnio, Charlène Magnani, Pierre-Olivier Mari, Giuseppina Giglia-Mari   +4 more
doaj   +1 more source

Xeroderma Pigmentosum [PDF]

Oxford Medical Case Reports, 2021
Gautam Srivastava, Govind Srivastava
openaire   +2 more sources

Myrid of histopathological features of malignancy in Xeroderma pigmentosum

Journal of Pathology of Nepal, 2013
Background: Xeroderma pigmentosum is a rare autosomal recessively inherited disorder affecting 1 in 2,50,000 population. It shows genetic heterogeneity with at least ten different complementation groups identified which have different clinical ...
S Karki, G Pandey, N Bhattarai
doaj   +1 more source