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GlossaryGenetic Mutations (mutations)

changes in DNA sequence that can affect traits or health

Genetic mutations are changes in the DNA sequence of an organism's genome. These alterations can occur naturally during DNA replication or be induced by environmental factors such as radiation or chemicals. While some mutations are harmless or even beneficial, others can lead to diseases or disorders, including various forms of 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.

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, February 2012 in “British Journal of Dermatology”

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

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 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 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 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.

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 Novel Compound Heterozygous Mutations in the Desmoplakin Gene Cause Hair Shaft Abnormalities and Culminate in Lethal Cardiomyopathy

5 citations, May 2014 in “Clinical and Experimental Dermatology”

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

research Short Anagen Hair Syndrome Is Caused by Mutations in the WNT10A Gene and Has a Genetic Overlap With Male Pattern Hair Loss

November 2023 in “British Journal of Dermatology”

Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.

research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to Severe Immunodeficiency but Normal Hair and Nail Development in Patients

May 2018 in “The journal of immunology/The Journal of immunology”

Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.

Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

research Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis

September 2016 in “Journal of Dermatological Science”

Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

research The Role of Mutations on Gene AR in Androgenetic Alopecia Syndrome

May 2020 in “International journal of molecular biology”

Mutations in the AR gene cause hair thinning and loss.

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

197 citations, June 2009 in “American journal of human genetics”

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

181 citations, January 2009 in “Nature Genetics”

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

98 citations, March 2019 in “Frontiers in immunology”

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

81 citations, July 2008 in “The Journal of Clinical Endocrinology and Metabolism”

Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.

research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity

65 citations, September 2014 in “Orphanet Journal of Rare Diseases”

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations

44 citations, November 2009 in “Archives of Dermatology”

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.