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GlossaryPHLDA1

gene linked to hair follicle development and hair loss

PHLDA1 (Pleckstrin Homology-Like Domain, Family A, Member 1) is a gene that encodes a protein involved in cell survival and apoptosis (programmed cell death). In the context of hair biology, PHLDA1 has been linked to hair follicle development and cycling, and its expression is often studied in relation to conditions like alopecia (hair loss).

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research Human epithelial hair follicle stem cells and their progeny: Current state of knowledge, the widening gap in translational research and future challenges

106 citations , March 2014 in “BioEssays”

We need more research to better understand human hair follicle stem cells for improved treatments for hair loss and skin cancer.

research Skin tumors with matrical differentiation: lessons from hair keratins, beta‐catenin and PHLDA‐1 expression

47 citations , February 2014 in “Journal of Cutaneous Pathology”

Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.

Expression Patterns of Gli-1, Pleckstrin Homology-Like Domain, Family A, Member 1, Transforming Growth Factor-β1/β2, and p63 in Sebaceous and Follicular Tumors

research Expression Patterns of Gli-1, Pleckstrin Homology-Like Domain, Family A, Member 1, Transforming Growth Factor-β1/β2, and p63 in Sebaceous and Follicular Tumors

8 citations , January 2014 in “Annals of Dermatology”

The research suggests that p63 and TGF-β1 may help determine tumor type and malignancy in hair follicle and sebaceous tumors.

Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg-like Cells, and Common EGFR Somatic Mutations

research Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg–like Cells, and Common EGFR Somatic Mutations

4 citations , May 2021 in “The American Journal of Surgical Pathology”

Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.

research Characterization and isolation of stem cell–enriched human hair follicle bulge cells

January 2007 in “The Year book of dermatology”

Researchers successfully isolated and identified key stem cells in human hair follicles, which could help develop new skin and hair treatments.

research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis

11 citations , April 2012 in “Journal of Investigative Dermatology”

A specific mutation in PA-PLA1α causes abnormal hair growth.

research LPA-producing enzyme PA-PLA₁α regulates hair follicle development by modulating EGFR signalling

151 citations , August 2011 in “The EMBO Journal”

The enzyme PA-PLA1α is important for proper hair follicle development.

Complete Defect in PA-PLA1α Secretion Function Leading to Autosomal Recessive Woolly Hair and Hypotrichosis: Insights from a Novel Compound Heterozygous LIPH Variant Study in a Chinese Pedigree

research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree

May 2025 in “Frontiers in Genetics”

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

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 Molecular characterization of GhPLDα1 and its relationship with secondary cell wall thickening in cotton fibers

13 citations , October 2016 in “Acta Biochimica et Biophysica Sinica”

GhPLDα1 helps thicken cotton fiber walls by boosting cellulose production.

Loss of Adipocyte Phospholipase Gene PLAAT3 Causes Lipodystrophy and Insulin Resistance Due to Inactivated Arachidonic Acid-Mediated PPARγ Signaling

research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling

April 2021

Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.

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 STEEL. IN: STRUCTURAL CONDITION ASSESSMENT

January 2005 in “Life sciences”

Targeting LPA could help treat skin disorders.

research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis

47 citations , September 2012 in “Human molecular genetics online/Human molecular genetics”

Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.

Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

72 citations , November 2012 in “PloS one”

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

research Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss

38 citations , February 2012 in “British Journal of Dermatology”

AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.

research The Investigation of LPA ₄ Functions in Zebrafish

April 2012 in “The FASEB Journal”

LPA 4 helps control blood and lymph vessel development in zebrafish.

Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker

research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A33:01 ; B14:02; C*08:02 as a genetic marker

7 citations , January 2019 in “Australasian Journal of Dermatology”

A genetic marker linked to a type of hair loss was found in most patients studied.

Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters

research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters

1 citations , May 2023 in “European Journal of Human Genetics”

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report

July 2025 in “Frontiers in Medicine”

Mutations in the LIPH gene cause woolly hair in a child.

research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair

August 2016 in “Journal of Investigative Dermatology”

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

research Frontal fibrosing alopecia and lichen planopilaris in HLA-identical mother and daughter

12 citations , January 2015 in “Indian Journal of Dermatology, Venereology and Leprology”

A mother and daughter with similar hair loss conditions and identical HLA types suggest a genetic link between the conditions.

research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene

7 citations , August 2017 in “Genetic testing and molecular biomarkers”

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

research PLCD1 and Pilar Cysts

5 citations , October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

research Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs

1 citations , October 2024 in “Canine Medicine and Genetics”

The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

194 citations , November 2006 in “Science”

A genetic mutation in the LIPH gene causes hair loss and growth defects.

research Phospholipase C 1 is required for skin stem cell lineage commitment

101 citations , June 2003 in “The EMBO Journal”

Phospholipase Cδ1 is crucial for normal skin and hair development.

research Phase separation: a new window in RALF signaling

2 citations , June 2024 in “Frontiers in Plant Science”

LLPS is crucial for RALF signaling, aiding plant growth and stress resilience.

research Folliculosebaceous neoplasms: A review of clinical and histological features

7 citations , March 2017 in “Journal of dermatology”

The conclusion is that accurately identifying folliculosebaceous tumors requires understanding their clinical signs and microscopic features.

research Hair follicle stem cells: A new arena

1 citations , January 2011 in “International Journal of Trichology”

Hair follicle stem cells have significant potential for treating various disorders.