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research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

16 citations , July 2021 in “American Journal of Medical Genetics Part A”

Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.

research Cutaneous Lesions in the Rat Following Administration of an Irreversible Inhibitor of erbB Receptors, Including the Epidermal Growth Factor Receptor

21 citations , April 2008 in “Toxicologic Pathology”

CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.

research Natural Killer Group 2 Type D (NKG2D) Gene Polymorphism in Systemic Lupus Erythematosus-Suez Canal Region - Egypt

March 2018 in “Suez Canal University Medical Journal”

NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.

research Alopecia: Association with Resistance to Thyroid Hormones

8 citations , January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

A specific thyroid hormone resistance mutation may be linked to different types of hair loss.

research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

11 citations , July 2010 in “European Journal of Dermatology”

The condition is linked to chromosome 12, but no mutations were found in the known genes.

research The role of functional variants in the aetiology of polycystic ovary syndrome

January 2017 in “Murdoch Research Repository (Murdoch University)”

A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.

A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1

17 citations , August 2012 in “Journal of Medical Genetics”

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

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 A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

60 citations , August 2008 in “Human molecular genetics online/Human molecular genetics”

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

6 citations , January 2022 in “BMC Medical Genomics”

Different gene mutations cause different types of ichthyosis, with some new mutations found.

research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

195 citations , June 2005 in “American Journal of Human Genetics”

Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.

research Gefitinib-induced hair alterations: Figure 1

7 citations , January 2009 in “BMJ Case Reports”

Gefitinib can cause slower, finer, brittle, and curly scalp hair.

research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

56 citations , January 2014 in “Journal of Investigative Dermatology”

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

8 citations , April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study

4 citations , October 2023 in “African Journal of Urology”

Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.

research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus

38 citations , September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology”

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

research Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts

August 2025 in “Cells”

CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.

research Defective trophoblast function in mice with a targeted mutation of Ets2

301 citations , May 1998 in “Genes & Development”

Ets2 gene is crucial for placental development in mice.

research Generalized atrophic benign epidermolysis bullosa.

51 citations , January 1997 in “PubMed”

GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.

Alopecia Areata Susceptibility Variant Identified by MHC Risk Haplotype Sequencing Reproduces Symptomatic Patched Hair Loss in Mice

research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice

April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)”

A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.

research The Dark Side of Gefitinib: Reflectance Confocal Microscopy Applied to Hair Hyperpigmentation

4 citations , October 2019 in “Skin Appendage Disorders”

Gefitinib can cause hair and eyebrow darkening.

research Genetic studies on the functional relevance of the protein prenyltransferases in skin keratinocytes

37 citations , January 2010 in “Human Molecular Genetics”

FTase and GGTase-I are essential for skin keratinocyte health.

research Booby Trap: Cancer gene spurs production of DNA-assaulting chemicals that alert and defuse rescue molecule (Cancer; Oxidative damage)

June 2002 in “Science of aging knowledge environment”

The cancer gene c-Myc increases harmful chemicals that damage DNA and can lead to cancer, but antioxidants can reduce this damage.

research Molecular basis of androgen receptor diseases

93 citations , January 2000 in “Annals of Medicine”

Mutations in the androgen receptor gene cause various disorders.

research Characterization of aberrant mTOR signaling pathway in U87MG glioblastoma cell line by quantitative phosphoproteomics

January 2021

Inhibiting mTORC2 can reduce DNA repair and increase cancer cell death, suggesting potential for targeted brain cancer treatments.

research Defolliculated (Dfl): A Dominant Mouse Mutation Leading to Poor Sebaceous Gland Differentiation and Total Elimination of Pelage Follicles

53 citations , July 2002 in “Journal of Investigative Dermatology”

The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.

research Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia

1 citations , May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)”

The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.

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