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GlossaryDesmoglein 4

protein crucial for hair follicle formation and maintenance

Desmoglein 4 is a protein that plays a crucial role in the formation and maintenance of hair follicles. It is part of the desmosome complex, which helps cells stick together, ensuring the structural integrity of tissues. Mutations in the gene encoding Desmoglein 4 can lead to hair disorders such as localized autosomal recessive hypotrichosis, characterized by sparse and fragile hair.

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research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family

25 citations, March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific gene mutation causes varying hair loss severity in a Pakistani family.

research The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene

50 citations, February 2004 in “Genomics”

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

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 Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

74 citations, January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.

research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats

13 citations, August 2005 in “Journal of Investigative Dermatology Symposium Proceedings”

Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.

Clinical Snippets: Melanoma Risk Prediction, Monilethrix Mutation, Keratitis-Ichthyosis-Deafness Syndrome, Skin Wrinkling and Lung Aging, Oxidative Stress in Androgenetic Alopecia

research Clinical Snippets: Melanoma Risk Prediction, Monilethrix Mutation, Keratitis-Ichthyosis-Deafness Syndrome, Skin Wrinkling and Lung Aging, Oxidative Stress in Androgenetic Alopecia

May 2015 in “Journal of Investigative Dermatology”

Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.

research Clinical Snippets: Insights into Dermatological Health and Disease

April 2015 in “Experimental Dermatology”

Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.

research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family

August 2023 in “Acta Scientific Paediatrics”

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature

15 citations, June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.

research Desmoglein 4 Is Regulated by Transcription Factors Implicated in Hair Shaft Differentiation

35 citations, August 2009 in “Differentiation”

Desmoglein 4 is controlled by specific proteins that affect hair growth.

A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

research A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

11 citations, December 2014 in “The American journal of pathology”

A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.

research Polymorphisms of FST Gene and Their Association with Wool Quality Traits in Chinese Merino Sheep

25 citations, April 2017 in “PloS one”

Certain genetic variations in the FST gene are linked to better wool quality in Chinese Merino sheep.

research Molecular Biology of Hair Morphogenesis: Development and Cycling

155 citations, August 2003 in “Journal Of Experimental Zoology Part B: Molecular And Developmental Evolution”

Understanding hair growth involves complex interactions between molecules and could help treat hair disorders.

T-Flavanone Improves Male Pattern Hair Loss by Enhancing Hair-Anchoring Strength: A Randomized, Double-Blind, Placebo-Controlled Study

research T-Flavanone Improves Male Pattern Hair Loss by Enhancing Hair-Anchoring Strength: A Randomized, Double-Blind, Placebo-Controlled Study

7 citations, February 2016 in “Dermatology and therapy”

t-Flavanone helps improve male pattern hair loss by making hair roots stronger.

research Study of Gene Expression Alteration in Male Androgenetic Alopecia: Evidence of Predominant Molecular Signaling Pathways

27 citations, April 2017 in “British Journal of Dermatology”

Hair loss involves immune responses, inflammation, and disrupted signaling pathways.

research Molecular Genetics of Alopecias

9 citations, January 2015 in “Current problems in dermatology”

Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.

research Biology and Genetics of Hair

89 citations, September 2010 in “Annual Review of Genomics and Human Genetics”

The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.

research Genetics of Structural Hair Disorders

17 citations, November 2012 in “Journal of Investigative Dermatology”

The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.

research Current Genetics in Hair Diseases

1 citations, February 2013 in “InTech eBooks”

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

research Independent DSG4 Frameshift Variants in Cats with Hair Shaft Dystrophy

December 2021 in “Molecular genetics and genomics”

Cats with abnormal hair had DSG4 gene changes causing hair problems.

research Congenital Hair Loss Disorders: Rare, But Not Too Rare

41 citations, November 2011 in “The Journal of Dermatology”

Some hair loss disorders are caused by genetic mutations affecting hair growth.

research Bald Thigh Syndrome in Sighthounds: Revisiting the Cause of a Well-Known Disease

5 citations, February 2019 in “PloS one”

Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.

research Keratin 71 Mutations: From Water Dogs to Woolly Hair

11 citations, September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology”

A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

research Inherited Disorders of the Hair

2 citations, January 2013 in “Elsevier eBooks”

The document explains the genetic causes and characteristics of inherited hair disorders.

research Hair Disorders

November 2019 in “Harper's Textbook of Pediatric Dermatology”

Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.

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 Transcriptome Profiling of Pilosebaceous Units in Male Androgenetic Alopecia Reveals Altered Junctional Networks

February 2021 in “Journal of Investigative Dermatology”

Hair loss in male pattern baldness is linked to changes in specific genes and proteins that affect hair growth and scalp health.

research Primary Follicular Dystrophy With Scarring Dermatitis in C57BL/6 Mouse Substrains Resembles Central Centrifugal Cicatricial Alopecia in Humans

56 citations, September 2010 in “Veterinary pathology”

Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.

research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions

9 citations, August 2021 in “Journal of clinical medicine”

Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.

research Hair Anomalies in a 6-Year-Old Girl

January 2016 in “Case reports in clinical medicine”

A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.