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research Post SARS-CoV-2 vaccination effluvium

September 2022 in “European Journal of Dermatology”

The study focused on a family with Junctional epidermolysis bullosa (JEB), a rare genetic disorder, to confirm their diagnosis and identify the pathogenic variant. Researchers collected clinical data and DNA from the family members, utilizing whole-exome sequencing and Sanger sequencing to detect gene variants. They discovered a novel splice-site variant (c.629-12T>G) in the LAMB3 gene, which was present in all patients and confirmed as pathogenic through in vitro experiments using the pMINI minigene system. The study concluded that diagnosing JEB should rely on gene sequencing, as splice site variants can also cause the disease.

research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome

4 citations , April 2019 in “Gynecological Endocrinology”

Certain gene variations are found in people with polycystic ovary syndrome.

research An important role of podoplanin in hair follicle growth

13 citations , July 2019 in “PLoS ONE”

Deleting podoplanin in mice promotes hair growth by enhancing cell migration.

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations , November 2016 in “American journal of human genetics”

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

research Evidence for multiple, developmentally regulated isoforms of Ptprq on hair cells of the inner ear

11 citations , August 2010 in “Developmental neurobiology”

Ptprq has multiple forms that change during inner ear development.

research The pioneer factor SOX9 competes for epigenetic factors to switch stem cell fates

6 citations , July 2023 in “Nature cell biology”

SOX9 helps determine stem cell roles by interacting with DNA and proteins that control gene activity.

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 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.

Dissecting the Role of the Common Neurotrophin Receptor CD271 in the Skin: Generation and Characterization of a Novel Mouse Model with Keratinocyte-Specific Conditional Deletion

research 186 Dissecting the role of the common neurotrophin receptor CD271 in the skin: generation and characterization of a novel mouse model with keratinocyte-specific conditional deletion

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

Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.

research SP1 and KROX20 Regulate the Proliferation of Dermal Papilla Cells and Target the CUX1 Gene

January 2024 in “Animals”

SP1 promotes and KROX20 inhibits hair cell growth by affecting the CUX1 gene.

research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hr^rh-R) in the Hairless Gene (Hr)

10 citations , January 2010 in “Veterinary pathology”

A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.

research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots

August 2025 in “International Journal of Contemporary Pediatrics”

HLD10 can include increased body hair and Mongolian spots.

research Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function

5 citations , September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease”

Hairless protein helps control hair growth by regulating vitamin D receptor activity.

research An epistatic effect of KRT25 on SP6 is involved in curly coat in horses

13 citations , April 2018 in “Scientific Reports”

The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.

research P5 Assembly of hair keratins in thansfected cultured cells

April 1996 in “Journal of Dermatological Science”

Detection of a Novel Missense Mutation in Atrichia with Papular Lesions

research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions

4 citations , January 2011 in “Annals of Dermatology”

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle

research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle

32 citations , February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology”

Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.

BJD Editor's Choice: Genetic Mutations in Greek Melanoma Patients, Dermoscopic Features of Pigmented Nodular Tumors, Herlitz Junctional Epidermolysis Bullosa in the Netherlands, and HDAC9 in Male-Pattern Baldness

research BJD Editor's Choice

January 2012 in “Journal of Investigative Dermatology”

Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.

research Introduction to Hair-Follicle-Associated Pluripotent Stem Cells

4 citations , January 2016 in “Methods in molecular biology”

HAP stem cells can repair nerves, grow hair follicle nerves, and become heart muscle cells, making them useful for regenerative medicine.

research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations

115 citations , October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum

November 2025 in “Journal of Investigative Dermatology”

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor

178 citations , October 2001 in “Genes & Development”

The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.

research Presentation1_BBS7–SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis.pdf

December 2021 in “Figshare”

BBS7 is essential for healthy gums by supporting cell function and blood flow.

research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis

January 2022 in “Research Square (Research Square)”

High TSPEAR levels in colorectal cancer predict worse outcomes.

research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion

4 citations , October 2021 in “Journal of Clinical Medicine”

Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

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 MiR‐200c‐3p as a novel genetic marker and therapeutic tool for alopecia areata

7 citations , March 2024 in “Skin Research and Technology”

miR-200c-3p could help diagnose and treat alopecia areata.

research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome

20 citations , May 2013 in “International Journal of Molecular Medicine”

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Candidate SNP Markers of Reproductive Potential Predicted by Significant Change in Affinity of TATA-Binding Protein for Human Gene Promoters

research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters

16 citations , February 2018 in “BMC Genomics”

Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.

research A direct link betweenPrss53, hair curvature, and skeletal dysplasia

February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)”

The gene Prss53 affects hair shape and bone development in rabbits.

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