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GlossaryNonsense Mutation (Premature Stop Codon)

change in DNA introduces a premature stop codon

A nonsense mutation, also known as a premature stop codon or termination mutation, is a change in the DNA sequence that introduces a stop codon where there shouldn't be one. This causes the protein synthesis process to halt prematurely, resulting in a truncated and usually nonfunctional protein. This type of mutation can lead to various genetic disorders, including some forms of alopecia, by disrupting the normal function of essential proteins.

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research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome

1 citations, August 2019 in “Journal of pediatric & adolescent gynecology”

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor

47 citations, February 1998 in “Journal of bone and mineral research”

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes

74 citations, October 1998 in “Journal of biological chemistry/The Journal of biological chemistry”

The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.

research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding Locus

38 citations, September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology”

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

3 citations, May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.

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 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 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin

10 citations, November 2018 in “Genetics in medicine”

Lack of cystatin M/E causes thin hair and dry skin.

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 Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

1 citations, September 2021 in “Frontiers in genetics”

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin

September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology”

Not having enough cystatin M/E protein causes less hair growth and dry skin.

research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing Within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant

6 citations, June 2012 in “PloS one”

A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.

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

3 citations, January 2020 in “Acta Dermato Venereologica”

Netherton Syndrome can cause severe skin lesions in rare cases.

research Prediction of Gain-of-Function and Loss-of-Function Mutations Using Combined Annotation Dependent Depletion

1 citations, September 2017

C-scores can help predict gain-of-function and loss-of-function mutations.

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 Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis

20 citations, July 2013 in “European Journal of Oral Sciences”

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.

research Epithelial-Mesenchymal Interactions Promote Hair Follicle Neogenesis and a New Stem Cell Niche in Adult Corneal Epithelium

August 2009 in “Mechanisms of Development”

Adult hair follicle cells can create new hair follicles from corneal cells with the right support.

research Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice

1533 citations, October 2008 in “Endocrine reviews”

Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.

research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed

1308 citations, March 1998 in “Journal of bone and mineral research”

The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.

research The Effects of Estrogens on Linear Bone Growth

173 citations, May 2001 in “Human reproduction update”

Oestrogens are key for bone growth during puberty in both boys and girls.

Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

98 citations, June 2001 in “Journal of biological chemistry/The Journal of biological chemistry”

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

Whole-Genome Sequencing of Eight Goat Populations for the Detection of Selection Signatures Underlying Production and Adaptive Traits

research Whole-Genome Sequencing of Eight Goat Populations for the Detection of Selection Signatures Underlying Production and Adaptive Traits

92 citations, December 2016 in “Scientific Reports”

Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.

research Learning From Nudity: Lessons From The Nude Phenotype

86 citations, October 2005 in “Experimental Dermatology”

The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.

research Foxp3 Post-Translational Modifications and Treg Suppressive Activity

82 citations, October 2019 in “Frontiers in Immunology”

Changes to the Foxp3 protein affect how well regulatory T cells can control the immune system, which could help treat immune diseases and cancer.

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 The Genetics of Hair Shaft Disorders

59 citations, June 2008 in “Journal of The American Academy of Dermatology”

The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.

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.

Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ

research Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ

44 citations, February 2012 in “The journal of neuroscience/The Journal of neuroscience”

Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.

research Expression of Foxi3 Is Regulated by Ectodysplasin in Skin Appendage Placodes

43 citations, February 2013 in “Developmental dynamics”

Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.

research Aromatase Deficiency in a Male Patient: Case Report and Literature Review

36 citations, October 2016 in “Bone”

A male with aromatase deficiency improved bone health with estradiol treatment.