4 citations
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February 2018 in “EMBO reports” This discussion highlights the potential of next-generation sequencing in forensic science for predicting phenotypic traits from DNA samples, but reports no new clinical results and underscores ongoing ethical and legal challenges.
30 citations
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May 2005 in “Pediatric dermatology” This report reviews familial cases of aplasia cutis of the scalp, noting large irregular defects at the vertex or anterior along the sagittal suture in six families.
29 citations
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June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
58 citations
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April 2012 in “Journal of the American Academy of Dermatology” Graft-versus-host disease is a complication where donor immune cells attack the recipient's body, often affecting the skin, liver, and gastrointestinal tract.
4 citations
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July 2025 in “Annals of the New York Academy of Sciences” This review emphasizes that collaboration between forensic anthropology and molecular anthropology could significantly improve the identification of unknown human remains by creating more comprehensive biological profiles.
September 2008 in “Fertility and Sterility” This study found that infertile couples who perceive themselves as having high intimacy report better subjective health, particularly in fulfilling social responsibilities and maintaining physical fitness.
3 citations
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January 2014 in “Indian dermatology online journal” This case report describes a 10-day-old female with aplasia cutis congenita, presenting with two spontaneously healing ulcers on her buttock and no associated abnormalities.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.
August 2004 in “Journal of the American College of Surgeons” This study found that endothelial cells under serum deprivation significantly upregulated genes related to inflammation and coagulation, which may impact outcomes in tissue transfer procedures.
4 citations
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January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
April 2024 in “Anais Brasileiros de Dermatologia”
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study developed a partially automated protocol utilizing hair follicles for DNA extraction in marmosets, achieving reliable whole genome sequencing with low chimerism, offering an efficient alternative to blood for genetic studies in non-human primates.
7 citations
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May 2021 in “Animal Genetics” This study found that the Siberian sunshine tabby coat modification is associated with a specific CORIN gene variant, suggesting a genetic basis for this golden phenotype in cats.
May 2012 in “Research and reports in neonatology” This article presents a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities, but reports no new findings beyond this case description.
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.
February 2026 in “IOP Conference Series Earth and Environmental Science” This study identified specific morphological characteristics and kinship relationships among 27 candlenut genotypes in Karo Regency, North Sumatra, highlighting variations in stem, leaf, flower, fruit, and kernel traits, with the closest relationship between MTB1 and MTB2 genotypes.
August 2015 in “Free Radical Biology and Medicine” This study explores the correlation between sirtuins' expression, histone deacetylation, and redox status in young and old monozygotic twins to understand their role in age-related mechanisms.
January 2024 in “Wiadomości Lekarskie” This study highlights the role of innate immunity and purinergic signaling in regulating hematopoiesis and hematopoietic stem/progenitor cell specification. The researchers observed that these ancient pathways operate both paracrinally and autocrinally within HSPCs, maintaining their developmental function throughout evolution.
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.
55 citations
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August 2003 in “Ultrasound in Obstetrics and Gynecology” This study suggests that ultrasound and color Doppler analyses may enhance the differential diagnosis of GnRH-dependent precocious puberty in girls with premature breast development or pubic hair growth.
1 citations
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January 2020 in “Journal of Translational Genetics and Genomics” This study identified 47 genetic variants with a higher frequency in centenarians compared to young controls in the Bulgarian population, suggesting potential associations with longevity.
73 citations
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June 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study provides further evidence for a genetic basis of PCOS, showing that polycystic ovarian morphology is a marker of inherited biochemical features in families with PCOS.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” This study found that polymorphism of the SHBG gene (rs1799941) is associated with an increased risk of Polycystic Ovary Syndrome in Iraqi women.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study presents evidence suggesting that populations now categorized as Black American are the original inhabitants of the Americas, with genetic heritage and identity obscured by historical reclassification to strip sovereign rights.
20 citations
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March 1985 in “Journal of The American Academy of Dermatology” Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
67 citations
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April 1988 in “The Journal of Clinical Endocrinology & Metabolism” This study describes a family with X-linked gynecomastia and undervirilization in men, finding a subtle androgen receptor abnormality that may not always lead to infertility despite androgen resistance.
24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” In this case report, a 2-year-old boy initially diagnosed with Sweet syndrome was later found to have chronic granulomatous disease, highlighting the importance of considering CGD in unusual cases of Sweet syndrome.
January 2024 in “Wiadomości Lekarskie” In this case-control study, researchers investigated the association between SIRT1 gene polymorphisms and colorectal cancer risk, finding no statistically significant differences in polymorphism frequencies between patients and controls, but noted trends that warrant further study in larger populations.
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.