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research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia

August 2024 in “American Journal of Medical Genetics Part A”

Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare disorder characterized by liver dysfunction, hypotonia, developmental delay, coarse hair, and dysmorphic features. This report describes the fifth and sixth cases of THNS from Saudi Arabia, both presenting with these symptoms. Genetic analysis revealed pathogenic variants in the CCDC47 gene: a homozygous variant in Case 1 and two heterozygous variants in Case 2, confirmed to be in trans phase through parental testing. These findings contribute to a stronger gene-disease association and help clarify the clinical phenotype and mutational spectrum of THNS.

research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes

12 citations , January 2000 in “Biochemical and Biophysical Research Communications”

The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.

research Primary Cutaneous Rhabdoid Squamous Cell Carcinoma: A Case Report and Review of Molecular Features

1 citations , November 2024 in “Cureus”

Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.

research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity

21 citations , September 1997 in “British Journal of Dermatology”

Monilethrix is linked to the type II keratin gene on chromosome 12q13.

research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene

November 1997 in “Open Archive (Karolinska Institutet)”

PTCH gene mutations contribute to basal cell carcinoma development.

Large-Scale Skin scRNA-Seq Profiling Highlights Distinct Body Site-Specific Ligand-Receptor Interactions and Pathways in Keratinocytes

research LB1671 Large-scale skin scRNA-seq profiling highlights distinct body site-specific ligand-receptor interactions and pathways in keratinocytes

August 2023 in “Journal of Investigative Dermatology”

Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.

Diagnostic Value of Chromosomal Microarray Analysis in Patients With Congenital Anomalies and Dysmorphic Features; Details of Two New Patients With 2q33 Deletions

research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS

December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi”

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

research High-confidence cancer patient stratification through multiomics investigation of DNA repair disorders

15 citations , November 2022 in “Cell Death and Disease”

CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.

research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

65 citations , September 2014 in “Orphanet Journal of Rare Diseases”

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome

152 citations , April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology”

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

GBP1 as a Machine Learning-Prioritized Biomarker and Therapeutic Target for Epstein-Barr Virus-Induced Clear Cell Renal Cell Carcinoma: Multi-Omics Causal Validation

research GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation

December 2025 in “International Journal of Surgery”

GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.

research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.

61 citations , September 1994 in “Journal of Medical Genetics”

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation

21 citations , October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia

7 citations , June 2011 in “Movement Disorders”

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

research 054 Deep Analysis of CD4+ Trm Cells in Normal and Atopic Dermatitis Human Skin

November 2025 in “Journal of Investigative Dermatology”

Certain immune cells in atopic dermatitis skin could be targeted for treatment.

research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing

July 2024 in “Journal of Investigative Dermatology”

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24

April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology”

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

research Basonuclin is associated with the ribosomal RNA genes on human keratinocyte mitotic chromosomes

36 citations , September 1999 in “Journal of Cell Science”

Basonuclin may help control ribosomal RNA gene activity in skin cells.

research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome

34 citations , September 2010 in “Clinical and Experimental Dermatology”

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

CD27 and IL-35 as Diagnostic Biomarkers in Alopecia Areata: First Evidence of Association with Pathogenic Scalp Bacterial Infections

research CD27 and IL-35 as diagnostic biomarkers in alopecia areata: First evidence of association with pathogenic scalp bacterial infections

December 2025 in “Babcock University Medical Journal”

CD27 and IL-35 can help diagnose alopecia areata linked to bacterial infections.

research 328 The transcription factor CEBPB is a novel hub gene and multi-functional disease driver in Psoriatic skin inflammation

November 2022 in “Journal of Investigative Dermatology”

ILC1-like cells can cause alopecia areata by themselves.

research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria

2 citations , September 2022

The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.

research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin

117 citations , August 1999 in “Nature Genetics”

Human Gene Correlation Analysis: A Tool for the Identification of Transcriptionally Co-Expressed Genes

research Human gene correlation analysis (HGCA): A tool for the identification of transcriptionally co-expressed genes

24 citations , June 2012 in “BMC Research Notes”

The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.

research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21

January 1993

The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.

research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain

77 citations , March 2000 in “Journal of Investigative Dermatology”

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

research Synthesis of porcine pCLCA2 protein during late differentiation of keratinocytes of epidermis and hair follicle inner root sheath

13 citations , September 2012 in “Cell & tissue research/Cell and tissue research”

pCLCA2 protein may help maintain skin structure and function.

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