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List of works by Sikandar G Khan

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.

scientific article published on 12 December 2012

Ancient origin of a Japanese xeroderma pigmentosum founder mutation

scientific article

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

scientific article

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

scientific article

Burning issues in the diagnosis of xeroderma pigmentosum.

scientific article published in December 2013

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

scientific article published on 19 November 2010

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

scientific article

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

scientific article published on 01 December 2000

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

scientific article

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

scientific article

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

scientific article published on 16 March 2016

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

scientific article published on 21 February 2014

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

scientific article published on 29 July 2011

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

scientific article

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

scientific article published on 19 February 2014

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

scientific article

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

scientific article

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

article

Ocular Manifestations of Trichothiodystrophy ⬇️

scientific article published on September 28, 2011

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

scientific article published on 16 April 2013

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

scientific article published on 01 May 2018

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

scientific article

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

scientific article published on 23 March 2015

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

scientific article

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

scientific article

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

scientific article published on 07 July 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).

scientific article published on 08 May 2013

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

scientific article published on 05 November 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.

scientific article

Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

scientific article

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

scientific article

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

scientific article

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

scientific article published in April 2012

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