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research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women

11 citations , April 2019 in “Bioscience Reports”

Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse

118 citations , June 1993 in “Journal of Biological Chemistry”

Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.

research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients

1 citations , January 2020 in “Benha Journal of Applied Sciences”

Certain gene variations may increase the risk and severity of alopecia areata.

research The Peach RGF/GLV Signaling Peptide pCTG134 Is Involved in a Regulatory Circuit That Sustains Auxin and Ethylene Actions

9 citations , October 2017 in “Frontiers in plant science”

The peach gene CTG134 helps control the interaction between auxin and ethylene, which could lead to new agricultural chemicals.

research Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men

78 citations , August 2012 in “Human molecular genetics online/Human molecular genetics”

A new gene, JMJD1C, may affect testosterone levels in men.

research The Proximal Promoter of the Human Transglutaminase 3 Gene

105 citations , February 1996 in “Journal of biological chemistry/The Journal of biological chemistry”

The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.

research Possible involvement of 5α-reduced neurosteroids in adrenergic and serotonergic stimulation of GFAP gene expression in rat C6 glioma cells

17 citations , April 2006 in “Brain Research”

5α-reduced neurosteroids may help regulate glial cell differentiation.

research Scraggly, a new hair loss mutation on mouse Chromosome 19

14 citations , September 1999 in “Mammalian genome”

The scraggly mutation causes hair loss and skin defects in mice.

research Structure of human type II 5 alpha-reductase gene.

124 citations , September 1992 in “Endocrinology”

The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.

research Diguanoside tetraphosphate (Gp₄G) is an epithelial cell and hair growth regulator.

2 citations , February 2012 in “PubMed”

Gp₄G promotes hair growth and improves skin health.

research A genome‐wide association study identified a genetic variant associated with hair thinning in Japanese women

March 2023 in “Journal of Cosmetic Dermatology”

A genetic variant linked to hair thinning in Japanese women was found.

research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

2 citations , January 2022 in “The Application of Clinical Genetics”

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects

22 citations , March 1994 in “Journal of Heredity”

A mutation in mice causes hair loss and immune problems.

Complex Genetic Dependencies Among Growth and Neurological Phenotypes in Healthy Children: Towards Deciphering Developmental Mechanisms

research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms

13 citations , December 2020 in “PLoS ONE”

Genetic factors influence growth and brain development in children.

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 Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

10 citations , November 2017 in “Journal of Investigative Dermatology”

A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.

research Changes in expression of the δ subunit of the GABA_Areceptor and in receptor function induced by progesterone exposure and withdrawal

25 citations , July 2006 in “Journal of Neurochemistry”

Progesterone affects GABA_A receptor function by altering δ subunit levels.

research Faculty Opinions recommendation of Modulation of phospholipid signaling by GLABRA2 in root-hair pattern formation.

September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.

Cloning, Computational Analysis and Expression Profiling of Steroid 5 Alpha-Reductase 1 (SRD5A1) Gene During Reproductive Phases and Ovatide Stimulation in Endangered Catfish, Clarias Magur

research Cloning, computational analysis and expression profiling of steroid 5 alpha-reductase 1 (SRD5A1) gene during reproductive phases and ovatide stimulation in endangered catfish, Clarias magur

November 2023 in “Scientific reports”

The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.

research FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation

60 citations , July 2014 in “Autophagy”

The protein FLCN is involved in cellular cleanup and is regulated by ULK1.

Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study

research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case–control Study

8 citations , October 2019 in “Immunological investigations”

The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.

research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation

November 2022 in “Journal of Investigative Dermatology”

NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.

research DGAT1 Modulates Hair Cycling and Is Essential for Retinoid Homeostasis in the Skin

June 2007

The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.

A Frameshift Insertion in SGK3 Leads to Recessive Hairlessness in Scottish Deerhounds: A Candidate Gene for Human Alopecia Conditions

research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions

10 citations , March 2019 in “Human Genetics”

A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.

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