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research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi

1 citations , April 2024 in “Animal Genetics”

A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.

research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle

1 citations , February 1991 in “Journal of Biological Chemistry”

research Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13

92 citations , February 2005 in “Journal of Investigative Dermatology”

research Exploiting molecular genetic diagnoses of polycystic ovary syndrome to achieve better patient outcome

January 2018 in “Murdoch Research Repository (Murdoch University)”

Improved genetic diagnosis of PCOS can lead to better patient outcomes.

research The ZIP7 Gene (Slc39a7) Encodes a Zinc Transporter Involved in Zinc Homeostasis of the Golgi Apparatus

195 citations , April 2005 in “Journal of biological chemistry/The Journal of biological chemistry”

The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.

research 1434 Epithelially derived MPZL3 negatively regulates murine and human sebaceous gland size and sebocyte proliferation

April 2023 in “Journal of Investigative Dermatology”

MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.

research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects

49 citations , January 2006 in “Developmental Dynamics”

Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.

research Mimicking Hair Disorders by Genetic Manipulation of Organ-Cultured Human Hair Follicles

5 citations , September 2012 in “Journal of Investigative Dermatology”

Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.

research 921 Generation of a new rodent model of scleroderma

April 2019 in “Journal of Investigative Dermatology”

Researchers created a new mouse model for studying scleroderma.

research Skin-specific expression of a truncated E1a oncoprotein binding to p105-Rb leads to abnormal hair follicle maturation without increased epidermal proliferation.

30 citations , June 1993 in “The Journal of Cell Biology”

The oncoprotein causes abnormal hair growth without increasing skin cancer risk.

research The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10

29 citations , January 2021 in “G3 Genes Genomes Genetics”

A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.

research Epigen Transgenic Mice Develop Enlarged Sebaceous Glands

33 citations , August 2009 in “Journal of Investigative Dermatology”

Overexpressing the epigen gene in mice leads to enlarged sebaceous glands and greasy fur.

research Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome

2 citations , October 2024 in “Phenomics”

research lncRNA H19 acts as a ceRNA to regulate the expression of CTGF by targeting miR-19b in polycystic ovary syndrome

21 citations , January 2020 in “Brazilian Journal of Medical and Biological Research”

H19 may help cause PCOS by affecting CTGF levels, suggesting a new treatment target.

research Mouse models with a disrupted PTHrP gene or a disrupted PTH gene (PTH−/− mice)

October 2010 in “Bone”

PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.

research Pre-clinical non-viral vectors exploited forin vivoCRISPR/Cas9 gene editing: an overview

23 citations , January 2022 in “Biomaterials Science”

Non-viral vectors show promise for safe and effective CRISPR/Cas9 gene editing in treating diseases.

research Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen

50 citations , April 2014 in “Nature Communications”

The research identified new skin traits in mice, some linked to human skin conditions.

research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene

July 2025 in “Clinical Case Reports”

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

research The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep

January 2002 in “Agritrop (Cirad)”

The hr gene is linked to hair loss in Valle del Belice sheep.

research In silico analysis of imprinted gene expression in the mouse skin

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

IGN genes may regulate hair growth and could be targeted for hair-loss treatments.

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 Author response: Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness

November 2022

Hairlessness in mammals is caused by combined changes in genes and regulatory regions.

research Integrated analysis of lncRNAs and mRNAs by RNA-Seq in secondary hair follicle development and cycling (anagen, catagen and telogen) of Jiangnan cashmere goat (Capra hircus)

24 citations , May 2022 in “BMC Veterinary Research”

lncRNAs play a key role in hair follicle development, affecting cashmere quality and yield.

research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene

48 citations , August 1998 in “Developmental Biology”

Deleting part of a gene in mice causes wavy hair and high pup loss.

research RETRACTED: Genetic causality and metabolite pathway identifying the relationship of blood metabolites and psoriasis

3 citations , July 2024 in “Skin Research and Technology”

research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

26 citations , December 2011 in “Journal of Investigative Dermatology”

New gene identification techniques have improved the understanding and classification of inherited hair disorders.

research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis

44 citations , April 2013 in “Proceedings of the National Academy of Sciences of the United States of America”

FGF13 gene changes cause excessive hair growth in a rare condition.

research Pmg-1 and Pmg-2 constitute a novel family of KAP genes differentially expressed during skin and mammary gland development

22 citations , August 1999 in “Mechanisms of Development”

Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.

A Powerful Method for Pleiotropic Analysis Under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer

research A Powerful Method for Pleiotropic Analysis under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer

2 citations , April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.

research Concerted gene duplications in the two keratin gene families

53 citations , May 1988 in “Journal of Molecular Evolution”

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