287 citations
,
July 2001 in “Journal of Cell Science” This study mapped 65 intermediate filament genes in the human genome, highlighting that the majority of keratin-related sequences are inactive pseudogenes, notably for keratins 8 and 18.
31 citations
,
January 2010 in “GenomeBiology.com (London. Print)” This study reports that X chromosomes often show greater differentiation between human populations than autosomes, likely due to a mix of demography and selection pressures.
7 citations
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January 2008 in “Indian Journal of Dermatology” This review discusses the clinical manifestations and genetic basis of pigmentary mosaicism, highlighting its varied phenotypic expressions, but reports no new clinical results.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
3 citations
,
April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study found that certain Y-chromosome alleles may influence susceptibility to prostate cancer among Iraqi males, suggesting potential genetic screening markers for the disease.
1 citations
,
May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
August 2024 in “The Journal of Urology” This study updates guidelines for evaluating and managing male infertility, including revised testing recommendations for Y-chromosome microdeletions, use of pelvic MRI, and testicular sperm in nonazoospermic males.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Robertsonian chromosomal translocations and their prevalence in the population, highlighting their association with infertility, and reports no new clinical results.
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.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
3 citations
,
October 2024 in “Animals” This study identified three genes in the ovine KAP13 family on chromosome 1 and found that a specific allele of KRTAP13-2 is associated with improved wool fibre diameter uniformity in Chinese Tan sheep, suggesting its potential use as a marker for enhancing wool traits.
5 citations
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March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
2 citations
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April 2022 in “Genes” This study identifies a polygenic basis for atypical recurrent flank alopecia in Cesky Fousek dogs through genome-wide association analysis and gene expression profiling, highlighting several metabolic pathways involved in the condition.
2 citations
,
May 2007 in “Pediatrics in Review” This case study reports a teenage boy with juvenile polyposis syndrome, presenting with microcytic anemia, growth failure, and rectal bleeding, leading to the diagnosis following colonoscopy and histologic examination of colonic polyps.
135 citations
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May 1994 in “Medical Entomology and Zoology” This collection reviews various animal models for dermatological research, particularly focusing on genetic mutations in laboratory mice, and reports no original findings.
26 citations
,
February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
November 2025 in “animal” In this study, researchers analyzed 24 European Merino sheep populations to investigate genetic adaptations to climate, identifying 168 significant SNPs and related genes associated with temperature variation and environmental adaptation, focusing on traits like isothermality and pathways related to immune response and system development.
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.
8 citations
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April 2015 in “Transboundary and Emerging Diseases” This report describes an outbreak of catheter-related infections by ESBL-producing E. coli in calves at an animal teaching hospital, highlighting the risk of these strains becoming nosocomial and increasing mortality and antibiotic use.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
70 citations
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December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
23 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This case report describes a 68-year-old woman with metastatic breast cancer who experienced significant improvement in visual acuity after stopping tamoxifen, which was associated with bilateral optic neuropathies.
March 2014 in “Fertility and Sterility” The April 2014 issue of "Fertility and Sterility" discussed various reproductive health topics, including hormone therapy benefits, sperm and genetic factors in male infertility, and the link between PCOS and diabetes.
1 citations
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May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” This article from the 4th Intercontinental Meeting of Hair Research Societies provides no abstract or new findings.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
4 citations
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January 2014 in “International Journal of Trichology” This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.
7 citations
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May 2005 in “Experimental Dermatology” This study reports that two mouse models of scarring alopecia exhibit similar patterns of hair loss progression despite histological differences in inflammatory cell localization and MHC class I expression.
62 citations
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March 2008 in “American Journal of Human Genetics” This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.