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Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages

research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages

25 citations , December 2018 in “Human Molecular Genetics”

The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.

research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix

20 citations , December 1999 in “Journal of Investigative Dermatology”

Mutations in the hHb6 gene cause the hair disorder monilethrix.

research Detection of Type IIHair Keratin Gene in a Family with Monilethrix

January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine”

A unique gene mutation was found in a family with monilethrix.

research PDGF isoforms induce and maintain anagen phase of murine hair follicles

136 citations , June 2006 in “Journal of Dermatological Science”

PDGF isoforms can promote and sustain hair growth.

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

37 citations , January 1993 in “Journal of Investigative Dermatology”

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 1326 Hes1 regulates anagen initiation and hair follicle regeneration through modulation of hedgehog signaling

April 2018 in “Journal of Investigative Dermatology”

research Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype

75 citations , April 2000 in “Developmental Dynamics”

Whn is essential for hair growth, and its malfunction causes hair loss.

research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

24 citations , May 2019 in “PLOS genetics”

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

research Functional mapping of the mouse hairless gene promoter region

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

Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.

research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression

132 citations , February 2002 in “Journal of Biological Chemistry”

HOXC13 is crucial for regulating hair keratin genes in hair follicles.

research Novel Effect of Hyaluronan and Proteoglycan Link Protein 1 (HAPLN1) on Hair Follicle Cells Proliferation and Hair Growth

1 citations , August 2023 in “Biomolecules & therapeutics”

HAPLN1 can promote hair growth and may help treat hair loss.

research A Novel Human Type II Cytokeratin, K6hf, Specifically Expressed in the Companion Layer of the Hair Follicle

139 citations , December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology”

K6hf is a unique protein found only in a specific layer of hair follicles.

research Hairless down-regulates expression of Msx2 and its related target genes in hair follicles

14 citations , April 2013 in “Journal of dermatological science”

Hairless protein reduces Msx2 gene activity, affecting hair follicle development.

research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites

6 citations , March 1996 in “Journal of Investigative Dermatology”

research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum

February 2026 in “Pediatric Dermatology”

research A novel monoclonal antibody to the outer root sheath cells

3 citations , October 1994 in “Journal of Dermatological Science”

The new antibody, TYHF-1, specifically targets certain hair-related structures.

research The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation

166 citations , July 1999 in “American Journal Of Pathology”

The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.

research FOXN1 Duplication and Congenital Hypertrichosis

3 citations , March 2017 in “Pediatric Dermatology”

FOXN1 duplication can cause excessive hair growth.

research Highly Upregulated Lhx2 in the Foxn1−/− Nude Mouse Phenotype Reflects a Dysregulated and Expanded Epidermal Stem Cell Niche

6 citations , May 2013 in “PloS one”

The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.

research A Novel Epithelial Keratin, hK6irs1, is Expressed Differentially in All Layers of the Inner Root Sheath, Including Specialized Huxley Cells (Flügelzellen) of the Human Hair Follicle

86 citations , May 2002 in “Journal of Investigative Dermatology”

A new keratin, hK6irs1, is found in all layers of the hair follicle's inner root sheath.

research Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles

25 citations , November 2020 in “Proceedings of the National Academy of Sciences”

HoxC genes are crucial for normal hair and nail development.

research Impaired Notch‐MKP‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology

112 citations , January 2013 in “Experimental dermatology”

Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.

research Characterization of LHTric-1, a new monospecific monoclonal antibody to the trichocyte keratin Ha1

19 citations , July 1997 in “British Journal of Dermatology”

LHTric-1 is a specific antibody useful for studying hair and nail formation.

research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia

26 citations , October 2002 in “Journal of Investigative Dermatology”

A specific gene mutation causes congenital hair loss.

Author Response: Lhx2 as a Progenitor-Intrinsic Modulator of Sonic Hedgehog Signaling During Early Retinal Neurogenesis

research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis

October 2022

Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.

Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

181 citations , January 2009 in “Nature Genetics”

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

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 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 mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix

3 citations , January 2011 in “生物医学研究杂志：英文版”

A new mutation in the KRT86 gene causes monilethrix in a Han family.

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