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research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus

November 2012 in “Experimental and Clinical Endocrinology & Diabetes”

A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.

K15 Promoter-Driven Enforced Expression of NKIRAS Exhibits Tumor Suppressive Activity Against the Development of DMBA/TPA-Induced Skin Tumors

research K15 promoter-driven enforced expression of NKIRAS exhibits tumor suppressive activity against the development of DMBA/TPA-induced skin tumors

4 citations , October 2021 in “Scientific Reports”

NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.

research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study

February 2026 in “Frontiers in Medicine”

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

Androgenetic Alopecia and Polymorphism of the Androgen Receptor Gene (SNP rs6152) in Patients with Benign Prostate Hyperplasia or Prostate Cancer

research Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with benign prostate hyperplasia or prostate cancer

11 citations , March 2014 in “Journal of The European Academy of Dermatology and Venereology”

Hair loss gene linked to prostate issues.

research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT

April 1974 in “Pediatric Research”

The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.

research Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

8 citations , July 2015 in “International Journal of Dermatology”

A new DSG4 gene mutation causes hair defects in a young girl.

research Transglutaminase-3, an esophageal cancer-related gene

32 citations , January 2000 in “International Journal of Cancer”

Transglutaminase-3 is often reduced in esophageal cancer.

research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease

January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

30 citations , January 2013 in “Human Mutation”

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

research De novo mutation in the mitochondrial tRNA^Leu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

19 citations , February 2001 in “Journal of paediatrics and child health”

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3

8 citations , February 2015 in “Cellular immunology”

Deleting Snai2 and Snai3 causes fatal autoimmunity.

research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings

November 2020 in “International journal of contemporary pediatrics”

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT

March 2022 in “Piretc”

A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.

research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis

9 citations , January 2011 in “EXPERIMENTAL ANIMALS”

A new rat strain with a specific gene mutation causes hair loss and kidney issues.

research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

36 citations , July 2014 in “Neuromuscular Disorders”

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

1 citations , August 2015 in “AACE Clinical Case Reports”

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

research 647 NLRP1 promotes tumor growth by enhancing inflammasome activation and suppressing caspase-3 activity in human melanoma

1 citations , April 2016 in “Journal of Investigative Dermatology”

NLRP1 helps melanoma tumors grow by boosting inflammasome activation and reducing caspase-3 activity.

research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance

March 2011 in “Open Archive (Karolinska Institutet)”

The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.

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 Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata

May 2023 in “Cutis”

A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.

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.

research Identification and characterization of an antisense RNA transcript (gfg) from the human basic fibroblast growth factor gene.

24 citations , July 1994 in “Molecular Endocrinology”

Researchers found an RNA transcript that might help control a growth factor linked to tumor development.

research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease

85 citations , March 2008 in “Journal of Cell Science”

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.

research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

19 citations , December 2015 in “European Journal of Human Genetics”

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

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.

research The mouse frizzy (fr) and rat ‘hairless’ (fr^CR) mutations are natural variants of protease serine S1 family member 8 (Prss8)

28 citations , February 2010 in “Experimental Dermatology”

The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.

research A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu

18 citations , February 2006 in “Genomics”

A new genetic mutation in mice causes permanent hair loss and skin wrinkling.

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Research

research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus

research K15 promoter-driven enforced expression of NKIRAS exhibits tumor suppressive activity against the development of DMBA/TPA-induced skin tumors

research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study

research Androgenetic alopecia and polymorphism of the androgen receptor gene (SNP rs6152) in patients with benign prostate hyperplasia or prostate cancer

research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT

research Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

research Transglutaminase-3, an esophageal cancer-related gene

research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease

research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

research De novo mutation in the mitochondrial tRNA^Leu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3

research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings

research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT

research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis

research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

research 647 NLRP1 promotes tumor growth by enhancing inflammasome activation and suppressing caspase-3 activity in human melanoma

research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance

research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene

research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata

research Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene

research Identification and characterization of an antisense RNA transcript (gfg) from the human basic fibroblast growth factor gene.

research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease

research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

research The circular RNA circNlgnmediates doxorubicin-inducedcardiac remodeling and fibrosis

research A mutation in MAP2 is associated with prenatal hair follicle density

research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome

research The mouse frizzy (fr) and rat ‘hairless’ (fr^CR) mutations are natural variants of protease serine S1 family member 8 (Prss8)

research A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu