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research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA

3 citations , February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine”

A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.

Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells

research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K_ATPChannel Mutations in Intact Cells

1 citations , August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics”

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].

2 citations , April 2008 in “PubMed”

A gene mutation causes monilethrix in a Chinese family.

research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues

April 2012

Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.

research Human hair keratin-associated proteins: Sequence regularities and structural implications

52 citations , May 2006 in “Journal of Structural Biology”

Keratin-associated proteins help link filaments and affect keratin's strength.

Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma

research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma

11 citations , September 2011 in “British Journal of Dermatology”

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14

March 2024 in “International journal of molecular sciences”

Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.

research Atrichia with papular lesions

8 citations , January 2011 in “International journal of trichology”

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

21 citations , April 2014 in “PLoS ONE”

A rare gene variant causes hair and nail issues in a family.

research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

24 citations , November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia”

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

research Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness

12 citations , September 2021 in “PLoS ONE”

WNT10A and EBF1 interaction affects hair growth in male-pattern baldness.

research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».

January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)”

The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.

research Skin manifestations of Bardet–Biedl syndrome

4 citations , October 2011 in “International Journal of Dermatology”

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.

114 citations , July 2003 in “PubMed”

Lack of KSR1 stops certain skin tumors in mice.

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.

research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1

December 2022 in “American journal of medical genetics. Part A”

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

research 577 The role of YAP1 in regeneration of human skin and in pathological states

November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

YAP1 is important for skin regeneration and may affect skin disorder treatments.

research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

98 citations , March 2019 in “Frontiers in immunology”

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

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 Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load

35 citations , August 2006 in “Molecular genetics and metabolism”

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience

1 citations , October 2023 in “Frontiers in Oncology”

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

P21Waf1/Cip1 Is Differentially Expressed in Epidermal Versus Follicular Melanocytes and Melanoma Cells and Is Phenotypically Regulated by UVB-Mediated Apoptosis

research 1272 p21Waf1/Cip1 is differentially expressed in epidermal versus follicular melanocytes and melanoma cells and is phenotypically regulated by UVB-mediated apoptosis

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

The protein p21 is more abundant in normal skin cells than in melanoma cells and may help protect against melanoma, with UVB light affecting its levels.

research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR

April 2016 in “Journal of Investigative Dermatology”

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements

30 citations , June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

research Interactions of the Vitamin D Receptor with the Corepressor Hairless

42 citations , July 2007 in “Journal of Biological Chemistry”

Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.

research The sheep KAP8-2 gene, a new KAP8 family member that is absent in humans

25 citations , September 2014 in “SpringerPlus”

Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.

research Influence of FHIT on benzo[ a ]pyrene-induced tumors and alopecia in mice: Chemoprevention by budesonide and N -acetylcysteine

24 citations , May 2006 in “Proceedings of the National Academy of Sciences of the United States of America”

Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.

research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice

15 citations , December 2014 in “PLoS ONE”

A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.

research A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3

34 citations , January 2004 in “Genomics”

A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.

research AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis

24 citations , January 2023 in “Cancer Research”

The study explored the role of AMP-activated protein kinase (AMPK) in enhancing melanocortin-1 receptor (MC1R) activity to suppress melanoma development, particularly in individuals with red hair, who are at higher risk due to genetic variations. AMPK phosphorylated ZDHHC13 at S208, which increased the interaction with MC1R-RHC, leading to enhanced MC1R palmitoylation and downstream signaling. This process repressed UVB-induced transformation of human melanocytes in vitro and delayed melanomagenesis in C57BL/6J-MC1R-RHC mice. The study also found that AMPK upregulation in human melanomas correlated with factors downstream from MC1R signaling and improved patient survival, suggesting that AMPK activation could be a promising strategy to reduce melanoma risk in red-haired individuals.

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