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GlossaryGenetic Mutation (Mutation)

change in the DNA sequence of a gene

A genetic mutation is a change in the DNA sequence of a gene. These alterations can occur naturally during DNA replication or be induced by environmental factors like radiation or chemicals. Mutations can lead to variations in protein function, which may result in different traits or health conditions, such as alopecia.

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research Intermolecular NH2-/Carboxyl-Terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity

227 citations, January 1998 in “Journal of biological chemistry/The Journal of biological chemistry”

Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.

research Cantú Syndrome Is Caused by Mutations in ABCC9

148 citations, May 2012 in “The American Journal of Human Genetics”

Cantú syndrome is caused by mutations in the ABCC9 gene.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations, September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

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 RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome

112 citations, August 2012 in “The American Journal of Human Genetics”

Mutations in the RBPJ gene cause Adams-Oliver Syndrome.

research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets

107 citations, March 2014 in “BoneKEy Reports”

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity

research A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity

91 citations, May 2005 in “The Journal of Clinical Endocrinology & Metabolism”

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

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 Regulatory Mutations in TBX3 Disrupt Asymmetric Hair Pigmentation That Underlies Dun Camouflage Color in Horses

73 citations, December 2015 in “Nature Genetics”

Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.

research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

55 citations, November 2018 in “American journal of human genetics”

Mutations in the LSS gene cause a rare type of hereditary hair loss.

research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

42 citations, October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the KRT85 gene cause hair and nail problems.

research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

34 citations, July 2020 in “American journal of human genetics”

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

research Mutations In AEC Syndrome Skin Reveal A Role For p63 In Basement Membrane Adhesion, Skin Barrier Integrity And Hair Follicle Biology

33 citations, May 2012 in “British Journal of Dermatology”

Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

30 citations, June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

research Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament

27 citations, November 2007 in “Genomics”

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

research Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

24 citations, November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia”

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

research Mutations in Sterol O-Acyltransferase 1 (SOAT1) Result in Hair Interior Defects in AKR/J Mice

23 citations, June 2010 in “Journal of Investigative Dermatology”

A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.

research A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy

13 citations, February 2012 in “International Journal of Dermatology”

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

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.

research An In Vivo Method for the Detection of Somatic Mutations at the Cellular Level in Mice

11 citations, February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis”

A new method can detect mutations in mice by observing changes in hair follicle cells.

research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene

9 citations, June 2000 in “Journal of The American Academy of Dermatology”

Mutation in hairless gene may increase hair loss risk.

research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome

9 citations, February 2013 in “Hormone and Metabolic Research”

Mutations in the CYP21A2 gene are not a major factor in causing PCOS.

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 Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia

7 citations, June 2011 in “Movement Disorders”

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

research A Syndromic Extreme Insulin Resistance Caused by Biallelic POC1A Mutations in Exon 10

7 citations, August 2017 in “European journal of endocrinology”

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation

6 citations, June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

research A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities

6 citations, May 2012 in “Archives of Dermatological Research”

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice

5 citations, September 2018 in “International journal of genomics”

Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.

research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B

4 citations, December 2013 in “The Journal of Dermatology”

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families

3 citations, February 2020 in “The journal of gene medicine”

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.