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GlossaryHomozygous

having two identical alleles for a specific gene

Homozygous refers to having two identical alleles for a particular gene. In simpler terms, if you inherit the same version of a gene from both your mother and your father, you are homozygous for that gene. This can influence traits such as hair color or susceptibility to certain conditions like alopecia. For example, if both alleles for a gene related to hair growth are the same, it can determine whether you have a full head of hair or are more prone to hair loss.

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Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

1 citations, June 2022 in “JCRPE”

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

12 citations, July 2016 in “British journal of dermatology/British journal of dermatology, Supplement”

Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.

research Homozygous Whole Body Cbs Knockout in Adult Mice Features Minimal Pathology During Aging Despite Severe Homocysteinemia

7 citations, March 2022 in “The FASEB journal”

Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.

Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient

research Case Report: Exploring Autosomal Recessive Woolly Hair: Genetic and Scanning Electron Microscopic Perspectives on a Japanese Patient

May 2024 in “Frontiers in medicine”

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

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 Prevalent Founder Mutation c.736T>A of LIPH in Autosomal Recessive Woolly Hair of Japanese Leads to Variable Severity of Hypotrichosis in Adulthood

12 citations, March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.

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.

Human FOXN1 Deficiency Is Associated with Alpha Beta Double-Negative and FoxP3 Positive T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation

research Human FOXN1 Deficiency Is Associated with Alpha Beta Double-Negative and FoxP3 Positive T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation

32 citations, May 2012 in “PloS one”

Thymic transplantation normalized some T-cells but not others, maintaining immune function.

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl

research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl

6 citations, January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

research Case Report of Schöpf–Schulz–Passarge Syndrome Resulting from a Missense Mutation, p.Arg104Cys, in WNT10A

5 citations, December 2017 in “The Journal of Dermatology”

A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.

research IL-17 Axis Is a Significant Driver of Skin Inflammation in CARD14 Mutant Pityriasis Rubra Pilaris Model Mice

February 2023 in “Research Square (Research Square)”

Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.

research Siberian Cats Help in Solving Part of the Mystery Surrounding Golden Cats

7 citations, May 2021 in “Animal Genetics”

The CORIN gene variant causes the golden color in Siberian cats.

research Case Report: NUDT15 Polymorphism and Severe Azathioprine-Induced Myelosuppression in a Young Chinese Female with Systemic Lupus Erythematosus: A Case Analysis and Literature Review

1 citations, May 2023 in “Frontiers in Pharmacology”

Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.

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 5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review

39 citations, April 2018 in “Hormones”

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

research Alopecia Areata Susceptibility Variant in MHC Region Impacts Expressions of Genes Contributing to Hair Keratinization and Is Involved in Hair Loss

19 citations, July 2020 in “EBioMedicine”

A gene variant increases the risk of a type of hair loss by affecting hair protein production.

research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

15 citations, February 2014 in “PloS one”

LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.

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.

research A Population Pharmacokinetic Model for Individualized Regimens of Finasteride According to CYP3A5 Genotype and Liver Function

October 2023 in “Journal of pharmaceutical investigation”

Finasteride dosages should be adjusted based on CYP3A5 genotype and liver function to avoid side effects.

research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia

26 citations, October 2002 in “Journal of Investigative Dermatology”

A specific gene mutation causes congenital hair loss.

Association of Gly972Arg Variant of Insulin Receptor Substrate-1 and Gly1057Asp Variant of Insulin Receptor Substrate-2 with Polycystic Ovary Syndrome in the Chinese Population

research Association of Gly972Arg Variant of Insulin Receptor Substrate-1 and Gly1057Asp Variant of Insulin Receptor Substrate-2 with Polycystic Ovary Syndrome in the Chinese Population

10 citations, October 2014 in “Journal of Ovarian Research”

The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.

research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters

1 citations, May 2023 in “European Journal of Human Genetics”

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis

17 citations, June 2017 in “Gene”

A rare genetic mutation found in an Indian family can be detected through prenatal screening.

research Polycystic Ovary Syndrome Is Linked With the Fat Mass Obesity (FTO) Gene Variants rs17817449 and rs1421085 in Western Saudi Arabia

2 citations, October 2021 in “Bioinformation”

Certain gene variants are linked to a higher risk of polycystic ovary syndrome, hair loss, and obesity in women from western Saudi Arabia.