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Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center Within the Middle East and North Africa Region

research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region

January 2025 in “Dermatology Practical & Conceptual”

A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.

Glucocorticoid Resistance Syndrome in Two Patients With Diverse Genotype

research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype

January 2025 in “JCEM Case Reports”

Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.

research CYP3A5 Polymorphism in Circulating Tumor Cells Confers an Increased Disease-Free Survival in DLBCL Patients Treated with R-CHOP

March 2025 in “OncoTargets and Therapy”

A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.

research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome

4 citations , January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology”

A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.

Phenotypic Heterogeneity in Five Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene

research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene

3 citations , January 1992 in “Clinical Pediatric Endocrinology”

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Peroxisome Proliferator Activated Receptors Gamma Serum Levels and Gene Polymorphism in Frontal Fibrosing Alopecia: A Case-Control Study

research Peroxisome Proliferator Activated Receptors Gamma Serum levels and Gene Polymorphism in Frontal Fibrosing Alopecia: A Case Control Study

July 2022 in “Research Square (Research Square)”

Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.

research Analysis of genetic polymorphisms of steroid 5α-reductase type 1 and 2 genes in Korean men with androgenetic alopecia

15 citations , April 2003 in “Journal of Dermatological Science”

Gene differences may affect baldness treatment response in Korean men.

research Identification de 2 polymorphismes génétiques (SNPs) associés aux spondylarthropathies (SpA) dans le locus SPA2 (9q31-34)

October 2007 in “Revue du Rhumatisme”

research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development

2 citations , September 2024 in “Asian Journal of Andrology”

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes

15 citations , October 2012 in “Journal of child neurology”

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

research Pharmacogenetics of the Androgen Metabolic Pathway

January 2010

Genetic Single Nucleotide Polymorphisms of IL-16 and Its Concentration in Patients Infected with Alopecia Areata in Diyala Province, Iraq

research Genetic Single Nucleotide Polymorphisms of IL-16 and its Concentration of Patients Infected with Alopecia Areata in Diyala Province, Iraq

January 2023 in “International Journal of Zoological Investigations”

Certain genetic variations in IL-16 may increase the risk of alopecia areata.

research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits

2 citations , May 2024 in “BMC Genomics”

Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.

Androgen Receptor (AR) Gene (CAG)n and (GGN)n Length Polymorphisms and Symptoms in Young Males With Long-Lasting Adverse Effects After Finasteride Use Against Androgenic Alopecia

research Androgen Receptor (AR) Gene (CAG)n and (GGN)n Length Polymorphisms and Symptoms in Young Males With Long-Lasting Adverse Effects After Finasteride Use Against Androgenic Alopecia

14 citations , December 2016 in “Sexual Medicine”

Finasteride side effects in young men may be linked to specific gene variations.

research A review of genotrichoses and hair pathology associated with inherited skin diseases

8 citations , March 2023 in “British Journal of Dermatology”

Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.

research Transcriptome-based Selection and Validation of Optimal House-keeping Genes for Skin Research in Goats (Capra hircus)

July 2020

NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.

research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa

80 citations , June 1997 in “The American Journal of Human Genetics”

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.

Complex Genetic Dependencies Among Growth and Neurological Phenotypes in Healthy Children: Towards Deciphering Developmental Mechanisms

research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms

13 citations , December 2020 in “PLoS ONE”

Genetic factors influence growth and brain development in children.

research Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer

December 2004 in “SUNScholar (Stellenbosch University)”

Certain genetic markers can indicate a person's risk of developing prostate cancer.

research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

44 citations , April 2013 in “Proceedings of the National Academy of Sciences of the United States of America”

FGF13 gene changes cause excessive hair growth in a rare condition.

Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study

research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study

8 citations , October 2019 in “Immunological investigations”

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

research Correlation Analysis of CXCL10, FOS, HOXC13, and WNT4 Gene Polymorphisms with Key Economic Traits—Initial Population Screening for Jiangnan Cashmere Goats

September 2025 in “Genes”

Certain gene variations in Jiangnan cashmere goats are linked to important traits like birth weight and fiber quality, useful for breeding.

Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

8 citations , January 2012 in “JIMD reports”

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

research Genetic Variants and Protective Immunity against SARS-CoV-2

5 citations , December 2022 in “Genes”

Genetic differences affect how people respond to COVID-19.

research Gene polymorphisms and serum levels of BDNF and CRH in vitiligo patients

July 2022 in “PLOS ONE”

Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.

research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.

46 citations , May 1995 in “Proceedings of the National Academy of Sciences”

A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.

research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease

12 citations , February 2021 in “Translational Psychiatry”

Researchers found two new genetic variants linked to Alzheimer's disease.

Abstracts From The 55th European Society Of Human Genetics Conference: Oral Presentations

research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations

5 citations , May 2023 in “European Journal of Human Genetics”

NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.

Whole-Genome Sequencing of Eight Goat Populations for the Detection of Selection Signatures Underlying Production and Adaptive Traits

research Whole-genome sequencing of eight goat populations for the detection of selection signatures underlying production and adaptive traits

92 citations , December 2016 in “Scientific Reports”

Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.

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