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Cross-Comparison of Inflammatory Skin Disease Transcriptomics Identifies PTEN as a Pathogenic Disease Classifier in Cutaneous Lupus Erythematosus

research 1616 Cross-comparison of inflammatory skin disease transcriptomics identifies PTEN as a pathogenic disease classifier in cutaneous lupus erythematosus

April 2023 in “Journal of Investigative Dermatology”

PTEN was identified as a specific marker for the skin disease cutaneous lupus erythematosus, and it helps increase the expression of harmful type I interferons.

research Hox demarcates regional regeneration of adult hair follicle stem cells

June 2017 in “Mechanisms of development”

Hox genes control hair follicle stem cell regeneration in different body regions.

research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin

4 citations , October 2003 in “Annales de Génétique”

A specific gene mutation causes different hair defects in Indian monilethrix families.

research Cyclical dermal micro-niche switching governs the morphological infradian rhythm of mouse zigzag hair

4 citations , August 2023 in “Nature Communications”

Mouse zigzag hair bends form due to a 3-day cycle of changes in hair progenitors and their environment.

research A Novel Gene Homologous to Teashirt is Differentially Expressed in Neonatal Mouse Skin During Development of Hair Follicles

January 2004 in “Molecular biotechnology”

research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants

March 2026 in “Journal of Investigative Dermatology”

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

53 citations , August 2019 in “American journal of human genetics”

FOXN1 gene variants cause low T cells and immune issues from birth.

research 602 Sox13 is a novel marker for hair follicle development and differentiation

September 2019 in “Journal of Investigative Dermatology”

Sox13 is a new marker for early hair follicle development and differentiation.

research Genomic Regions Associated with Wool, Growth and Reproduction Traits in Uruguayan Merino Sheep

19 citations , January 2023 in “Genes”

Certain genes influence wool, growth, and reproduction traits in Uruguayan Merino sheep.

research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene

48 citations , August 1998 in “Developmental Biology”

Deleting part of a gene in mice causes wavy hair and high pup loss.

research Two siblings with uncombable hair syndrome: A new pathogenic variant

2 citations , March 2024 in “Pediatric Dermatology”

Two siblings have a rare hair condition caused by a new genetic variant.

research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat

28 citations , October 2004 in “Differentiation”

A gene deletion causes the "hairless" trait in Iffa Credo rats.

research Association analysis of polymorphisms in six keratin genes with wool traits in sheep

17 citations , November 2017 in “Asian-Australasian journal of animal sciences”

Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.

research Radially patterned morphogenesis of murine hair follicle placodes ensures robust epithelial budding

8 citations , October 2024 in “Developmental Cell”

research Mapping of cis-acting expression quantitative trait loci in human scalp hair follicles

4 citations , November 2020 in “BMC Dermatology”

Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.

research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions

47 citations , April 2000 in “Experimental Dermatology”

A new gene mutation causes a rare type of hair loss.

research Combing the genome for the root cause of baldness

7 citations , October 2008 in “Nature Genetics”

Two key genetic areas linked to male-pattern baldness were identified.

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.

research Pax9 is required for filiform papilla development and suppresses skin-specific differentiation of the mammalian tongue epithelium

56 citations , July 2004 in “Mechanisms of Development”

Pax9 is crucial for proper tongue surface development and preventing skin-like changes.

research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility

97 citations , March 2002 in “Molecular and cellular biology”

Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.

research DKK4 as a novel candidate marker for Zhexi Angora rabbit wool quality

March 2026 in “World Rabbit Science”

DKK4 can be used to improve wool quality in Zhexi Angora rabbits.

research ‘Atrichosis’, a new hairless gene with cyst formation in rats

5 citations , February 1981 in “Experientia”

A new gene causes hairlessness and skin cysts in rats.

research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report

May 2025 in “Dermatology Reports”

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

research Trichotillomania associated with the "Friar Tuck sign" and nail-biting.

26 citations , February 1991 in “PubMed”

Trichotillomania can be identified by a "Friar Tuck sign" and nail-biting.

research An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15

15 citations , January 1991 in “Mammalian Genome”

research Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits

7 citations , January 2021 in “Frontiers in genetics”

Inherited color dilution in rabbits is linked to DNA methylation changes.

research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle

2 citations , July 2021 in “Genes”

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

research Several variants on chromosome 10 are associated with coarse hair diameter in Dazu black goats (Capra hircus)

3 citations , January 2025 in “Animal Genetics”

Variants on chromosome 10 affect hair thickness in Dazu black goats.

Deletion of Hypoxia-Inducible Factor Prolyl 4-Hydroxylase 2 in FoxD1-Lineage Mesenchymal Cells Leads to Congenital Truncal Alopecia

research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia

March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)”

Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

7 citations , January 2015 in “Case reports in genetics”

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

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