De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper‐ and Hypo‐pigmentation (FPHH)-Reference-Cited by-同舟云学术

De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper‐ and Hypo‐pigmentation (FPHH)

Published:2021-10-30 Issue:12 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Gorenjak Mario¹^ORCID,Fijačko Nino²,Bogomir Marko Pij³,Živanović Milanka⁴,Potočnik Uroš¹⁵

Affiliation:

1. Faculty of Medicine Centre for Human Molecular Genetics and Pharmacogenomics University of Maribor Maribor Slovenia

2. Faculty of Health Sciences Department of Nursing Maribor Slovenia

3. Department of Dermatology and Venereal Diseases University Clinical Centre Maribor Maribor Slovenia

4. Faculty of Medicine Institute of Pathology University of Ljubljana Ljubljana Slovenia

5. Faculty of Chemistry and Chemical Engineering Laboratory of Biochemistry, Molecular Biology and Genomics University of Maribor Maribor Slovenia

Funder

Javna Agencija za Raziskovalno Dejavnost RS

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1841

Reference40 articles.

1. Predicting functional effect of human missense mutations using PolyPhen‐2;Adzhubei I.;Current Protocols in Human Genetics,2013

2. A method and server for predicting damaging missense mutations

3. KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation

4. Andrews S.(2010).FastQC: A quality control tool for high throughput sequence data. Available online:http://www.bioinformatics.babraham.ac.uk/projects/fastqc/

5. Trimmomatic: a flexible trimmer for Illumina sequence data

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1. A case of familial progressive hyperpigmentation with or without hypopigmentation presenting with hypopigmented striae along the lines of Blaschko;The Journal of Dermatology;2024-09-13

2. A novel KITLG mutation causes familial progressive hyperpigmentation and hypopigmentation with multiple café-au-lait macules;Indian Journal of Dermatology, Venereology and Leprology;2024-07-01

3. Investigating the impact of pigmentation variation of breast muscle on growth traits, melanin deposition, and gene expression in Xuefeng black-bone chickens;Poultry Science;2024-06

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