This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
37 citations
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October 2015 in “European Journal of Human Genetics” This study found that a genetic model using SNPs can predict early-onset male-pattern baldness with moderate accuracy, which may assist in decisions about interventions.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.
2 citations
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May 2024 in “BMC Genomics” This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.
7 citations
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January 2015 in “Dermatology” This study found that specific CYP19A1 gene SNPs were significantly associated with female pattern hair loss risk in a Chinese Han population.
April 2023 in “Anatomy Physiology & Biochemistry International Journal” In this study, researchers identified specific SNPs associated with polycystic ovarian syndrome in women from Karnataka, which could improve understanding of genetic mechanisms and aid in future diagnosis and treatment efforts.
39 citations
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December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
11 citations
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April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
In this study, the authors reported that certain SNPs on chromosome 20 were associated with androgenetic alopecia in the ethnic Han population of Yunnan, with specific alleles linked to higher likelihood of developing the condition.
November 2020 in “UNC Libraries” In this study, researchers identified seven new genetic loci associated with prostate cancer susceptibility through a multi-stage genome-wide association study.
117 citations
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September 2003 in “Molecular & cellular proteomics” This study demonstrated the development of high-density protein microarrays allowing for antibody binding characterization and serum profiling from patients with autoimmune diseases, suggesting potential for diagnostic marker discovery.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
11 citations
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January 2014 in “Dermatology” This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
January 2026 in “Figshare” This table reports gene set enrichment analysis scores for hair follicle compartments across diseases and sampling methods, providing comparisons but no new experimental findings.
7 citations
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January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced a statistical method, PLACO, which revealed novel genetic regions associated with both Type 2 Diabetes and Prostate Cancer from GWAS data.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
December 2015 in “PLOS Genetics” This study reports no new clinical results as it focuses on risk score analysis using top SNPs identified in genome-wide significant loci.
This study conducted a genome-wide association analysis on 1,125 ewes and identified 24 SNPs associated with wool production traits, and highlighted potential candidate genes like ADAR and TP53 for further research into the genetic mechanisms influencing wool growth in sheep.
January 2020 in “SSRN Electronic Journal” This study observed distinct clusters of autoantibodies in children with pSLE, with significant differences in several clinical manifestations like hair loss, oral ulcers, arthritis, neurological symptoms, renal issues, and AIHA among the clusters.
January 2026 in “Figshare” This report presents gene set enrichment scores for hair follicle compartments using tape strip and bulk biopsy methods, providing statistical data but no new experimental findings.
27 citations
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October 2011 in “British Journal of Dermatology” This study builds on previous findings by associating female pattern hair loss with gene polymorphisms related to oestrogen activity, suggesting oestrogen's role in the condition.
September 2020 in “Research Square (Research Square)” This study identified 21 candidate genes related to immunoglobulin concentrations in colostrum and serum of dairy cattle, which may aid in genetic improvement for disease resistance.
July 2020 in “Research Square (Research Square)” This study identified 21 candidate genes linked to immunoglobulin levels in colostrum and serum of dairy cattle, suggesting potential for genetic selection to enhance immunity.
April 2016 in “The Journal of Sexual Medicine” This report analyzed an FDA adverse event database and aimed to evaluate and describe post-finasteride syndrome potentially related to dutasteride, but it does not report new clinical findings.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
13 citations
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July 2024 in “BMC Genomics” In this study, researchers found that single SNPs have a small genetic effect on phenotypes in Inner Mongolia cashmere goats, and constructing haplotypes from associated SNPs may uncover complex variations in cashmere traits, aiding genomics and breeding efforts.
32 citations
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August 2016 in “Science Signaling” This study developed PiSCES biosignatures that distinguished alopecia areata patients from controls, revealing enhanced basal TCR signaling and a potential disease-specific signaling network signature.