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Dr Khadim Shah

  /  Dr Khadim Shah
Assistant Professor, Biotechnology
Specialization:

Molecular Biology, Human Molecular Genetics


Email: kshah@cuiatd.edu.pk
Phone: 0992-383591-5

Academics/ Degrees:

  • PhD (2018): Qauid-I-Azam
    University Islamabad, Pakistan
  • MPhil (2013): Hazara
    University Mansehra, Pakistan
  • MSc (2010): University of
    Peshawar
 
Journal Publications
1. K. Shah A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase defciency in a Pakistani family: a case report, BMC Medical Case Reports, 2022
2. Sobia Zaman,R.Ahmad,S.Naqvi,A.Hassan,M.Shah,J.Hussain,Aziz Ullah Sayal,Dr. AM Abbasi,K. Shah,Bakht Zaman Determination of genetic diversity, sinigrin contents, and elicitors-induced enhancement of sinigrin in Nasturtium officinale L., Turkish Journal of Agriculture and Forestry, 2022
3. K. Shah Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family, Journal of Clinical Laboratory Analysis , 2022
4. K. Shah A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family, European Journal of Dermatology , 2021
5. K. Shah Woodhouse‐Sakati Syndrome in a Family is Associated with Homozygous Start Loss Mutation in the DCAF17 Gene, Clinical and Experimental Dermatology, 2019
6. K. Shah Woodhouse-Sakati Syndrome in a Family is Associated with Homozygous Start Loss Mutation in the DCAF17 Gene, Clinicala and Experimental Dermatology, 2019
7. Dr. Humaira Ayub,F. Wahid,K. Shah Molecular Mechanisms of Complement System Proteins and Matrix Metalloproteinases in the Pathogenesis of Age-Related Macular Degeneration, Current Molecular Medicine, 2019
8. K. Shah Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families, International Journal of Dermatology, 2019
9. K. Shah BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan, Annals of Human Genetics, 2019
10. K. Shah Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance, Journal of Human Genetics, 2018
11. K. Shah Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment, BMC Medical Genetics, 2018
12. K. Shah Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux., International Journal of Biochemistry and Cell Biology, 2018
13. K. Shah Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families, Clinical and Experimental Dermatology, 2018
14. K. Shah Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families, International Journal of Dermatology, 2017
15. K. Shah A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family, British Journal of Dermatology, 2017
16. K. Shah Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing, British Journal of Dermatology, 2017
17. K. Shah Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families, Molecular vision, 2017
18. K. Shah Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families, Congenital Anomalies, 2017
19. K. Shah Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb, European Journal of Human Genetics, 2017
20. K. Shah A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family, BMC Medical Genetics, 2017
21. K. Shah GLY67ARG substitution in RSPO4 disrupts the WNT signaling pathway due to an abnormal binding pattern with LGRs leading to anonychia, RCS Advances, 2017
22. K. Shah Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families, Turkish Journal of Biology, 2017
23. K. Shah Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix, Journal of Medical Genetics, 2016
24. K. Shah A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family., Clinical and Experimental Dermatology, 2016
25. K. Shah Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP, BMC Medical Genetics, 2016
26. K. Shah Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome, Clinical Genetics, 2016
 
 
Profile/Bio
  • Sep 2018 to Continued: Assistant
    Professor, Department of Environmental COMSATS University Islamabad, Abbottabad
    campus, Pakistan
  • Sep 2017 to May 2018: Postdoctoral Research
    Associate, Department of Biochemistry, Quaid-i-Azam University, Islamabad,
    Pakistan
  • Oct 2015 to Apr 2016: Research Associate,
    University of Colorado Denver, USA
  • Sep 2013 Sep 2015: Research Associate,
    Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan
 
Associations

Member of the American Society of Human Genetics
 
Research Interests
  • Cancer
  • Diabetes
  • Genodermatoses
    including ichthyosis, epidermolysis bullosa, ectodermal dysplasia,
    alopecia
  • Genetic
    skeletal defects
  • Inherited
    neurological and ocular defects
 
Awards

Received an international sandwich Ph.D. fellowship for
University of Colorado Denver, USA, from Higher Education Commission (HEC),
Pakistan.
 
Research Projects

Received Start Up Research Grant (SRGP) of 0.5 million from
Higher Education Commission (HEC), Pakistan for “Identification of Genes
Involved in Human Hereditary Skin Conditions” (2018-2019).
 
Students Supervised

1.     
Clinical
Characterization and Molecular
Analysis of Primary
Congenital Glaucoma Families
of Pakistani Origin, MS,Wasia Arshad

2.     
Indirect Effects of the COVID-19 Pandemic on Maternal
Mortality in Abbottabad: A cross sectional study,MS,Kiran Iqbal

3.     
Association Study of microRNA
Binding Site Single Nucleotide
Polymorphisms with Urinal Bladder Cancer in Pakistani Population,MS,Muhammad Usman

4.     
Mapping Genes causing isolated
Familial Strabismus in Pakistani
Families,MS,Ziad Ahmad

5.     
Association
Analysis of INS polymorphism and Staphylococcus aureus with Diabetes Mellitus, MS  ,Aiman Irshad

6.      Association
Study of SNPs in miRNA Binding Site with Breast Cancer in Pakistan,MS,Urooj
Javed