February 2025 in “Archives animal breeding/Archiv für Tierzucht” This study found that certain gene polymorphisms in keratin 27 and ELOVL4 are linked to improved cashmere fineness and production traits in Liaoning cashmere goats.
May 2020 in “Research Square (Research Square)” This study found that trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting a similar pathogenesis, particularly in those with aggressive clinical courses linked to TP53 mutations.
April 2020 in “Research Square (Research Square)” This study reported genetic mutations in trichilemmal carcinoma similar to those found in other skin cancers, including TP53 mutations associated with aggressive disease.
June 2017 in “Journal of clinical and investigative dermatology” This article reviews the genetic associations between MTHFR mutations, homocysteine levels, and autoimmune diseases, without reporting new experimental results.
174 citations
,
November 2002 in “Expert Reviews in Molecular Medicine” This review discusses the genetic factors contributing to androgenetic alopecia and highlights the potential for developing more effective therapies based on recent discoveries, but reports no new clinical results.
58 citations
,
June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
30 citations
,
January 2000 in “Dermatologic Clinics” This article reviews the genetic and psychological aspects of androgenetic alopecia in men and women, reporting no new clinical findings while emphasizing the broad impact of this hair loss condition.
6 citations
,
January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
5 citations
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August 2019 in “iScience” In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
21 citations
,
January 2006 in “Pediatrics” This review discusses how certain genetic, infectious, and metabolic conditions might influence disease severity and highlights the potential for new therapies, but it presents no new research findings.
62 citations
,
April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
12 citations
,
February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
7 citations
,
January 2017 in “American Journal of Biological Anthropology” This review explores the various genetic, hormonal, environmental, and nutritional factors proposed to explain the historically shorter stature of Sardinians, while reporting no new empirical findings.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
226 citations
,
September 2001 in “Journal of The American Academy of Dermatology” Hair loss in women is genetic, diagnosed by examination and biopsy, and treated with minoxidil, finasteride, or transplantation.
54 citations
,
July 2002 in “Clinical and Experimental Dermatology” This article provides a critical overview of recent discoveries in the genetics and molecular processes involved in androgenetic alopecia, focusing on its polygenic basis and DHT dependency, but reports no new clinical results.
23 citations
,
November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
13 citations
,
October 2010 in “Pharmacogenomics” This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
1 citations
,
September 2020 in “Journal of the Endocrine Society” Men have worse COVID-19 outcomes than women due to genetic and hormonal differences.
January 2022 in “International journal of zoology and animal biology” This review discusses canine dermatomyositis, highlighting its genetic basis, clinical manifestations, and the need for improved treatment options, without reporting new findings.
This study found that Nubian ibex have developed genetic adaptations in response to their desert environment, including enhanced skin barrier, DNA repair, viral response, and metabolism of toxic compounds.
September 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that zebrafish and stickleback fish use similar genetic programs for tooth regeneration, despite differences in their dental structures.
November 2014 in “Elsevier eBooks” This article reviews the clinical and biochemical features of genetic mutations affecting dihydrotestosterone production and their potential role in male pseudo-hermaphroditism, but presents no new clinical results.
8 citations
,
May 2017 in “IUBMB life” This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.
47 citations
,
December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.