Search

for
Search:

GlossaryGenetic 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.

Related Terms

Sort by

Research

30 / 1000+ results

Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

19 citations, August 1999 in “European journal of endocrinology”

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

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 A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix

3 citations, February 2011 in “Journal of Biomedical Research/Journal of biomedical research”

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han 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 Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene

19 citations, May 2006 in “Clinical and Experimental Dermatology”

Researchers found a new mutation causing total hair loss from birth.

research A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient

13 citations, November 2009 in “Journal of Dermatological Science”

A gene mutation causes woolly hair in a Syrian patient.

research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia

12 citations, January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie”

Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.

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: A Case Report and Literature Review

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 Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hr^rh-R) in the Hairless Gene (Hr)

10 citations, January 2010 in “Veterinary pathology”

A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.

Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

9 citations, February 2018 in “The Journal of Dermatology”

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation

9 citations, June 2017 in “American journal of ophthalmology. Case reports”

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia

6 citations, November 2017 in “Scientific reports”

The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.

research Missense Mutation Y449H of the K10 Gene in a Patient with Severe Epidermolytic Ichthyosis

3 citations, March 2019 in “European Journal of Dermatology”

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

research Case Report: Acrodermatitis Enteropathica Resulting From a Novel SLC39A4 Gene Mutation

November 2022 in “Frontiers in pediatrics”

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats

75 citations, September 2007 in “Journal of Heredity”

FGF5 gene mutations cause long hair in domestic cats.

research A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification

66 citations, October 2002 in “Human molecular genetics online/Human molecular genetics”

A gene mutation in mice causes skin defects and early death.

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 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 Identical p53 Gene Mutation in Malignant Proliferating Trichilemmal Tumor of the Scalp and Small Cell Carcinoma of the Common Bile Duct: The Necessity for Therapeutic Caution

11 citations, May 2008 in “British journal of dermatology/British journal of dermatology, Supplement”

Identical p53 gene mutations in different cancers suggest the need for careful treatment.

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.

Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A*33:01; B*14:02; C*08:02 as a Genetic Marker

research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A33:01; B14:02; C*08:02 as a Genetic Marker

7 citations, January 2019 in “Australasian Journal of Dermatology”

A genetic marker linked to a type of hair loss was found in most patients studied.

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 Homozygous Missense Mutation in the Fibroblast Growth Factor 5 Gene Is Associated with the Long-Hair Trait in Angora Rabbits

5 citations, June 2023 in “BMC genomics”

A specific gene mutation causes long hair in Angora rabbits.

Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

3 citations, December 2021 in “Frontiers in endocrinology”

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

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

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

Mutation in hairless gene may increase hair loss risk.

research Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome

1 citations, September 2019 in “Steroids”

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

Search

for
Search:

Related Terms

Research

research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

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

research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix

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

research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene

research A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient

research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia

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

research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hr^rh-R) in the Hairless Gene (Hr)

research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation

research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia

research Missense Mutation Y449H of the K10 Gene in a Patient with Severe Epidermolytic Ichthyosis

research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case Report: Acrodermatitis Enteropathica Resulting From a Novel SLC39A4 Gene Mutation

research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats

research A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification

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

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

research Identical p53 Gene Mutation in Malignant Proliferating Trichilemmal Tumor of the Scalp and Small Cell Carcinoma of the Common Bile Duct: The Necessity for Therapeutic Caution

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

research Study of Human Leukocyte Antigen in 13 Cases of Familial Frontal Fibrosing Alopecia: CYP21A2 Gene p.V281L Mutation from Congenital Adrenal Hyperplasia Linked to HLA Class I Haplotype HLA-A33:01; B14:02; C*08:02 as a Genetic Marker

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

research A Homozygous Missense Mutation in the Fibroblast Growth Factor 5 Gene Is Associated with the Long-Hair Trait in Angora Rabbits

research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

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

research Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome

research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation

research Mutation Analysis of the Type II Hair Keratin Gene in a Family of Han Nationality with Monilethrix

research Unusual Systemic Lupus Erythematosus/Sjogren's Syndrome Phenotype in a Patient with a TNFAIP3 Gene Mutation