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Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review

research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature

11 citations , January 2020 in “BMC pediatrics”

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

1 citations , August 2019 in “Journal of pediatric & adolescent gynecology”

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report

January 2024 in “Clinical, cosmetic and investigational dermatology”

A child with a rare vitamin D-resistant condition improved with treatment.

research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

36 citations , January 2010 in “Journal of Pediatric Endocrinology and Metabolism”

A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma

research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

1 citations , March 2023 in “Frontiers in Cardiovascular Medicine”

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

research C‐reactive protein as a novel biomarker for vitamin D deficiency in alopecia areata

March 2024 in “Skin research and technology”

High CRP levels could indicate vitamin D deficiency in people with alopecia areata.

research Association of atopic dermatitis with autoimmune diseases: A bidirectional and multivariable two-sample mendelian randomization study

12 citations , March 2023 in “Frontiers in immunology”

Atopic dermatitis increases the risk of some autoimmune diseases.

research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice

3 citations , July 2022 in “Brain and Behavior”

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene

10 citations , January 2014 in “Journal of Pediatric Endocrinology and Metabolism”

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair

210 citations , February 2008 in “Nature genetics”

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

research The alopecia areata phenotype is induced by the water avoidance stress test in cchcr1-deficient mice

December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.

research Genetic mapping of hair loss through the APCDD1 gene pathway: A new perspective

April 2024 in “Demiroglu Science University Florence Nightingale Journal of Medicine”

Understanding the APCDD1 gene can lead to new hair loss treatments.

research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome

May 2025

A KRT32 gene variant causes loose anagen hair syndrome.

research Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage

3 citations , June 2017 in “Reproductive biomedicine online”

A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.

research Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer

23 citations , January 2014 in “International Journal of Biological Sciences”

African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.

research Sex dependent influence of a functional polymorphism in steroid 5‐α‐reductase type 2 (SRD5A2) on post‐traumatic stress symptoms

35 citations , March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics”

SRD5A2 gene variations affect PTSD symptoms differently in males and females.

research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.

2 citations , October 2023 in “PubMed”

Scientists created a cell model to study and find treatments for a skin disease called RDEB.

research Editorial highlights

October 2024 in “Developmental Dynamics”

The document highlights recent advances in developmental biology, focusing on three studies. The first study establishes a zebrafish model for Diamond-Blackfan anemia like (DBAL), showing that epoa-deficient zebrafish can be used to screen treatments for anemia, with recombinant human EPO improving erythrocyte numbers. The second study investigates the role of Alx4 in craniofacial and hair development, using Alx4fx/fx conditional mice to explore the mechanisms of ALX4-related disorders and alopecia, finding that Alx4 loss leads to developmental defects and hair loss. The third study examines the mTORC1 signaling pathway's role in retinal development, demonstrating that its disruption in retinal progenitor cells causes lamination deficits and visual behavior loss, highlighting mTORC1's importance in CNS histogenesis.

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.

Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency

research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

64 citations , August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture

97 citations , March 2010 in “The American Journal of Human Genetics”

A mutation in the KRT74 gene causes tightly curled hair.

research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa

June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)”

Scientists created cell lines to study a genetic skin disorder using CRISPR technology.

research Adrenoleukodystrophy: A Rare Case Report

4 citations , January 1970 in “Journal of Bangladesh College of Physicians and Surgeons”

Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.

research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes

5 citations , April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology”

The gene therapy showed significant wound healing and was safe for treating severe RDEB.

research The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata

9 citations , May 2019 in “Medicine”

The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.

The E211 G>A Androgen Receptor Polymorphism Is Associated With a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia

research The E211 G>A Androgen Receptor Polymorphism Is Associated with a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia

76 citations , April 2005 in “Cancer Epidemiology, Biomarkers & Prevention”

E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.

A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family

research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family

9 citations , March 2018 in “European journal of dermatology/EJD. European journal of dermatology”

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

research Finding bald spots on chromosome 20p11

1 citations , February 2009 in “Clinical Genetics”

New genes linked to male pattern baldness were found on chromosome 20p11.

research 412 High amphiregulin expression is a high-risk feature of acute graft-versus-host disease of the skin

April 2018 in “Journal of Investigative Dermatology”

High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.

research ACKR2 limits skin fibrosis and hair loss through IFN‐β

10 citations , September 2021 in “The FASEB Journal”

ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.

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