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Genotyping Of The Rs1800440 Polymorphism In CYP1B1 Gene And The Rs9258883 Polymorphism In HLA-B Gene In A Spanish Cohort Of 223 Patients With Frontal Fibrosing Alopecia

research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia

1 citations , September 2023 in “Acta dermato-venereologica”

Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.

Optimization and Characterization of a Focal Dermal Hypoplasia Mouse Model to Test Potential Treatments

research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments

April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology”

Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.

research Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer

20 citations , March 2021 in “Cancers”

Certain genetic variants increase the risk of aggressive prostate cancer.

research 599 PPARg signaling modulation protects from hair follicle bulge stem cell damage and cyclophosphamide-induced hair follicle cytotoxicity

September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”

PPARγ signaling modulation can protect hair follicle stem cells from chemotherapy-induced damage.

research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene

50 citations , February 2004 in “Genomics”

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

research PINK1 deficiency rewires early immune responses in a mouse model of Parkinson’s disease triggered by intestinal infection

4 citations , May 2025 in “npj Parkinson s Disease”

PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.

research Pilot study: genetic distribution of AR, FGF5, SULT1A1 and CYP3A5 polymorphisms in male Mexican population with androgenetic alopecia.

January 2022 in “PubMed”

Certain genetic variations are linked to hair loss in Mexican men.

research Abstract 1835: Development of mammary hyperplasia, dysplasia, and invasive ductal carcinoma in transgenic mice expressing the 8p11 amplicon oncogene NSD3 (WHSC1L1)

1 citations , July 2017 in “Cancer Research”

Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.

research The Suppression of Very Long Chain Fatty Acids Is Associated with Skin Carcinogenesis

March 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

Suppressing very long chain fatty acids is linked to skin cancer.

research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

8 citations , June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.

4 citations , January 2009 in “PubMed”

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

research 549 Temporary cell cycle arrest in human scalp hair follicles and their epithelial stem cells by ALRN-6924: A novel strategy to selectively protect p53-wildtype cells against paclitaxel-induced alopecia

1 citations , November 2022 in “Journal of Investigative Dermatology”

ALRN-6924 may prevent hair loss caused by chemotherapy.

research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy

6 citations , March 2016 in “PLoS ONE”

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

106 citations , March 2013 in “Nature Communications”

A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.

research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13

51 citations , December 2006 in “Mammalian Genome”

research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

60 citations , March 2006 in “Journal of Medical Genetics”

A mutation in the KRTHB5 gene causes hair and nail issues.

research Granulomatous skin involvement in a patient with an unusual NOD2 mutation

1 citations , January 2016 in “Australasian Journal of Dermatology”

A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.

research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

47 citations , July 1998 in “Journal of Investigative Dermatology”

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

research Berardinelli–Seip syndrome

February 2026 in “Endokrynologia Polska”

Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

research A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice

6 citations , January 2004 in “DNA Research”

A mutation in the Sgkl gene causes defective hair growth in mice.

research 137 Loss of myeloid Mcpip1 suppresses hair growth and development of epidermal papilloma of the skin

November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology”

Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.

research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

100 citations , November 1997 in “Human Genetics”

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.

research A Transition State Analogue of 5′-Methylthioadenosine Phosphorylase Induces Apoptosis in Head and Neck Cancers

75 citations , June 2007 in “Journal of Biological Chemistry”

MT-DADMe-ImmA can selectively kill head and neck cancer cells without harming normal cells.

research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy

5 citations , May 2014 in “Clinical and Experimental Dermatology”

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

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.

Papillon-Lefèvre Syndrome: A Rare Case Report and a Brief Review of Literature

research Papillon-Lefévre Syndrome: A Rare Case Report and a Brief Review of Literature

1 citations , June 2022 in “Curēus”

Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.

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 A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

30 citations , January 2013 in “Human Mutation”

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

7 citations , June 2016 in “Bone Research”

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

research An in vivo method for the detection of somatic mutations at the cellular level in mice

11 citations , February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis”

A new method can detect mutations in mice by observing changes in hair follicle cells.

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