Lista de obras - Sikandar G Khan - Dominio Público Uruguay

A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family

scientific article published on 22 June 2006

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

artículo científico publicado en 2012

Ancient origin of a Japanese xeroderma pigmentosum founder mutation

artículo científico publicado en 2012

Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study.

artículo científico publicado en 2005

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration

artículo científico publicado en 2013

Burning issues in the diagnosis of xeroderma pigmentosum.

artículo científico publicado en 2013

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

artículo científico publicado en 2010

Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency

artículo científico publicado en 2013

Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life

artículo científico publicado en 2000

Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum

artículo científico publicado en 2012

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

artículo científico publicado en 2009

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

artículo científico publicado en 2016

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

artículo científico publicado en 2014

High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.

artículo científico publicado en 2011

Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage

artículo científico publicado en 2007

Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.

artículo científico

Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health.

artículo científico publicado en 2017

Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype

artículo científico publicado en 2014

No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma

article

Ocular Manifestations of Trichothiodystrophy ⬇️

artículo científico publicado el 28 de septiembre de 2011

Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage

artículo científico publicado en 2013

Pembrolizumab treatment of a patient with xeroderma pigmentosum with disseminated melanoma and multiple nonmelanoma skin cancers

artículo científico publicado en 2018

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

artículo científico publicado en 2008

Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients

artículo científico publicado en 2015

Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

artículo científico publicado en 2002

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

artículo científico publicado en 2013

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).

artículo científico publicado en 2008

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).

artículo científico publicado en 2013

Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging

artículo científico publicado en 2020

Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.

artículo científico publicado en 2003

Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

artículo científico publicado en 2009

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.

artículo científico publicado en 2010

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms

artículo científico publicado en 2008

Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.

artículo científico publicado en 2012

Lista de obras de Sikandar G Khan

A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

Ancient origin of a Japanese xeroderma pigmentosum founder mutation

Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study.

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration

Burning issues in the diagnosis of xeroderma pigmentosum.

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency

Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life

Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.

Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage

Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.

Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health.

Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype

No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma

Ocular Manifestations of Trichothiodystrophy ⬇️

Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage

Pembrolizumab treatment of a patient with xeroderma pigmentosum with disseminated melanoma and multiple nonmelanoma skin cancers

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients

Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).

The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).

Thyroid nodules in xeroderma pigmentosum patients: a feature of premature aging

Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.

Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms

Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.