This chapter reviews current and future strategies for identifying ligands and functions of orphan G protein-coupled receptors, but it reports no new experimental results.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
39 citations
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January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
In this study with mice, simultaneous inactivation of Smad4 and PTEN genes led to rapid development of invasive forestomach squamous cell carcinomas, mirroring human esophageal SCCs.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
January 2007 in “Journal of Inner Mongolia University” This study achieved successful cloning of the ovine keratin associated protein 6-1 gene, which may facilitate future research on transgenic animals and hair follicle gene regulation.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
10 citations
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November 2008 in “Veterinary Dermatology” In this study, the misshaped and hairy ear phenotype in mutant mice was linked to mis-expression of certain Hoxc genes due to a chromosomal inversion.
3 citations
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September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
This study successfully established a functionally stable immortalized sheep granulosa cell line (GCs-SV40T-GFP) that can passaged up to 50 generations, maintaining morphological stability and estradiol secretion, offering a valuable model for research into animal reproductive function and hormone regulation.
28 citations
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August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
7 citations
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May 2022 in “Cancers” This study found that UC.145 influences DKK1 methylation and Wnt signaling in gastric cancer, with implications for patient survival and its potential as a predictive biomarker.
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.
7 citations
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August 2017 in “PloS one” This study found that NIH hairless mice exhibit abnormalities in hair growth and immune-related pathways, with Pik3r1 and Pik3r3 identified as key genes for further investigation.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
April 2010 in “The FASEB Journal” This study found that knockout mice lacking intestinal hephaestin are smaller and anemic compared to wild-type, suggesting other mechanisms may compensate for iron absorption.
July 2002 in “Science s STKE” In this study, the researchers reported that altering β-catenin signaling in a transgenic mouse model led to changes in skin cell fate, notably converting hair follicle cells into epidermal cells and forming cysts instead of follicles.
5 citations
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July 2014 in “Molecular Biology Reports” August 2023 in “Journal of Investigative Dermatology” Senescent melanocytes in nevus skin boost hair growth.
January 2026 in “Biomolecules” This review suggests that the TSC22D family genes may influence metabolism and cancer, potentially serving as a therapeutic target for conditions like diabetes, obesity, and certain tumors, depending on the tumor environment.
This study identified four genes related to alopecia areata: GIMAP6 and ALOX15 as risk factors, and GALNT6 and HEG1 as protective factors, noting significant validation differences in GALNT6 and HEG1.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
2 citations
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January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
August 2023 in “Frontiers in Endocrinology” This study identified novel mitochondrial DNA variations in PCOS patients from Pakistan, which may serve as genetic predisposition markers, highlighting especially the potential pathogenicity of frameshift mutations in the MT-ND2 gene.
178 citations
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May 2006 in “Developmental Dynamics” This review discusses the role of jumonji family proteins in chromatin regulation and development, highlighting their involvement in transcriptional repression and histone demethylation, but reports no new experimental findings.
This study found that FGF5 alternative spliceosomes inhibit dermal papilla cell proliferation and regulate hair follicle growth-related gene expression, impacting hair follicle development in rabbits.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
153 citations
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April 1998 in “Current Biology” This study found that benign tumors with a high risk of malignant progression primarily arise from hair follicle cells when a mutant ras gene is expressed in a specific population of epidermal cells in mice.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
1 citations
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October 2022 in “Molecular therapy” This study found that betibeglogene autotemcel significantly improved transfusion independence in 89% of patients with transfusion-dependent beta-thalassemia, although the high cost and manufacturing challenges may limit widespread adoption.