301 citations
,
May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
2 citations
,
September 2020 in “Schweizer Archiv für Tierheilkunde” This study found that Swiss cattle exhibiting rat-tail syndrome are heterozygous for genetic variants linked to pigmentation and color dilution, likely due to Holstein introgression in the Simmental breed.
137 citations
,
October 2009 in “The American journal of pathology” This study found that matriptase, a membrane serine protease, is crucial for maintaining multiple types of epithelial tissues in mice, with its absence leading to severe organ dysfunction and increased permeability.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
23 citations
,
February 2021 in “Journal of Endocrinological Investigation” This review discusses the impact of COVID-19 on the endocrine system and reports no clinical results; the authors emphasize the need to investigate endocrine damage during and after COVID-19 infection.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
8 citations
,
October 2022 in “Biomedical Materials” This study found that incorporating hair follicle-primed spheroids into skin constructs showed potential for developing hair-bearing skin mimetics with follicle-forming abilities in vitro.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
1 citations
,
February 2013 in “InTech eBooks” This article discusses research about Netherton syndrome, highlighting its contributions to understanding epidermal structure, immune responses, and processes like atopic dermatitis, but it reports no new clinical findings.
In this case report, a 7-month-old boy with Netherton syndrome experienced significant improvement in symptoms, including reduced pruritus and increased hair growth, through a combination of intravenous immunoglobulin and dupilumab treatment, which also decreased high serum IgE levels and food-specific IgE antibodies.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
July 2012 in “Medical Hypotheses” Artemis dysfunction might cause hair loss through telomere shortening.
8 citations
,
January 2022 in “BMC Biology” This study found that the gene SRD5A1, associated with methylation changes due to early-life environment, may play a role in altering reproductive phenotypes in women by delaying pubertal onset and decreasing ovarian reserve.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
166 citations
,
July 1999 in “American Journal Of Pathology” This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.
52 citations
,
July 2011 in “PubMed” This review discusses the diverse roles of the TRPS1 gene in regulating cartilage, kidney, and hair follicle development, highlighting its functions and interactions, but provides no new experimental results.
41 citations
,
October 2001 in “Experimental Dermatology” This review discusses the molecular and functional aspects of the nude gene in skin biology, providing insights into its role and evolutionary development, but reports no new results.
25 citations
,
October 2000 in “Gene” This study found that Foxn1-like genes in fish and mice are functionally equivalent in activating hair keratin genes, whereas changes in the cephalochordate Foxn1-like gene result in inactivity.
9 citations
,
March 2009 in “Psychoneuroendocrinology” This study found that variations in the androgen receptor gene influenced memory function in women, with GGN repeat polymorphisms significantly affecting logical memory performance only in females.
195 citations
,
February 2005 in “Journal of biological chemistry/The Journal of biological chemistry” This study shows that ZIP7 is a functional zinc transporter in mammalian cells, facilitating the movement of zinc from the Golgi apparatus to the cytoplasm.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
98 citations
,
December 1991 in “Annals of the New York Academy of Sciences” This study found that conserved DNA motifs and expression patterns in keratin genes suggest functional regulatory similarities in hair follicle differentiation across different mammalian species.
74 citations
,
October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
37 citations
,
January 2010 in “Human Molecular Genetics” In this study using mice with specific gene knockouts, both farnesyltransferase and geranylgeranyltransferase-I were found to be essential for the proliferation and survival of skin keratinocytes.
28 citations
,
December 2018 in “Plant, cell & environment/Plant, cell and environment” This study found that the PLC2 gene plays a critical role in auxin-mediated root development in Arabidopsis, influencing root growth and PIN2 distribution.
8 citations
,
September 2024 in “BMC Genomics” In this study, researchers found that the novel gene circCFAP20DC enhances the proliferation of goat follicular granulosa cells by activating the RB pathway, facilitating their progression from the G1 to S phase during follicular development.
2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
6 citations
,
July 1994 in “Journal of Dermatological Science” This study found that introducing the recombinant rat OTC gene into SPF-ASH mice restored normal hair growth and metabolic function, improving symptoms associated with OTC deficiency.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.