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GlossaryFrameshift Mutation (Frameshift)

insertion or deletion of nucleotides shifts DNA reading frame

A frameshift mutation is a type of genetic mutation where the insertion or deletion of a number of nucleotides in DNA that is not divisible by three shifts the reading frame of the genetic code. This alteration can lead to the production of completely different proteins, often resulting in nonfunctional proteins, which can cause various genetic disorders and diseases.

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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 A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter

March 2023 in “JAAD case reports”

A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.

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 Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I

January 2013 in “International Journal of Trichology”

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

research A Frameshift Mutation in the TRPS1 Gene Showing a Mild Phenotype of Trichorhinophalangeal Syndrome Type 1

1 citations, December 2018 in “Journal of genetic medicine”

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10

22 citations, September 2014 in “JAMA dermatology”

Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

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 Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report

6 citations, October 2020 in “Endocrine journal”

A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.

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 Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1

2 citations, December 2020 in “Endocrinology, diabetes & metabolism case reports”

A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.

research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

1 citations, November 2022 in “Diagnostics”

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

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 Analysis of the Hybrid Schwannoma and Neurofibroma Including a Case Report of Schwannomatosis Caused by a Mutation in the LZTR1 Gene

November 2022 in “Journal of Investigative Dermatology”

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan

August 2020 in “Pakistan Journal of Zoology”

A new mutation in the Hairless gene causes hair loss in two Pakistani families.

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.

Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report

research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report

September 2022 in “Frontiers in genetics”

A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.

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 Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II

18 citations, November 2009 in “Calcified tissue international”

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

17 citations, August 2012 in “Journal of Medical Genetics”

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

research A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome

8 citations, December 2009 in “Journal of The European Academy of Dermatology and Venereology”

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

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 Postzygotic KRAS G12C Mutation Associated with Various Malignancies Also Underlying Epidermal Nevus Syndrome

September 2016 in “Journal of Dermatological Science”

A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.

research Antiaging Effect of Pleurotus Cornucopiae Extracts

September 2016 in “Journal of Dermatological Science”

Golden oyster mushroom extract may protect skin cells from aging by its antioxidant properties.

research A Cell Polarity Protein, aPKCλ, Is Essential for Maintaining Hair Follicle Stem Cell Quiescence and Hair Follicle Regeneration

September 2016 in “Journal of Dermatological Science”

The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.

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 Spatiotemporal Control of CRISPR/Cas9 Gene Editing

51 citations, June 2021 in “Signal Transduction and Targeted Therapy”

The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.

research A Clinical Approach to Severe Insulin Resistance

32 citations, January 2007 in “KARGER eBooks”

Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.

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Research

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

research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter

research Independent DSG4 Frameshift Variants in Cats with Hair Shaft Dystrophy

research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I

research A Frameshift Mutation in the TRPS1 Gene Showing a Mild Phenotype of Trichorhinophalangeal Syndrome Type 1

research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10

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

research Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report

research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle

research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1

research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

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

research Analysis of the Hybrid Schwannoma and Neurofibroma Including a Case Report of Schwannomatosis Caused by a Mutation in the LZTR1 Gene

research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan

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

research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report

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

research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II

research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

research A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome

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

research Postzygotic KRAS G12C Mutation Associated with Various Malignancies Also Underlying Epidermal Nevus Syndrome

research Antiaging Effect of Pleurotus Cornucopiae Extracts

research A Cell Polarity Protein, aPKCλ, Is Essential for Maintaining Hair Follicle Stem Cell Quiescence and Hair Follicle Regeneration

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

research Spatiotemporal Control of CRISPR/Cas9 Gene Editing

research A Clinical Approach to Severe Insulin Resistance

research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis

research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy

research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome