69 citations
,
August 2015 in “Stem Cells” This review discusses the principles, methods, advantages, and limitations of lineage tracing in stem cell and developmental biology but does not report new findings.
117 citations
,
August 1999 in “Nature Genetics” 2 citations
,
March 2024 in “Pediatric Dermatology” This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.
2 citations
,
September 2021 in “F1000Research” This study found that the ABCG2 (Q191K) polymorphism increases the risk of hyperuricemia and hypercholesterolemia specifically in young Mexican males.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
15 citations
,
April 2024 in “Animals” This study examined cashmere goats using whole-genome resequencing data and found that the Inner Mongolia cashmere goat had the lowest inbreeding coefficient, with genes identified linked to fiber, fertility, disease resistance, and growth, which can inform future breeding efforts.
April 2022 in “The Journal of Sexual Medicine” This study reports that simultaneous cystoscopy, electroejaculation, transurethral resection of ejaculatory ducts, and seminal vesiculography were safe and effective in diagnosing and treating concurrent hematospermia and anorgasmia.
3 citations
,
May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
2 citations
,
August 2008 in “Oncotarget” In this study, intravital microscopy in live mice showed that apoptosis in hair follicle regression may be driven by apoptotic cells inducing neighboring cell death, with stem cells likely providing a pro-survival signal.
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
61 citations
,
September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
January 2022 in “European journal of anatomy” This study reports a rare case of polyorchidism in a 96-year-old male cadaver, suggesting a new classification based on anatomical and histological findings to aid in accurate diagnosis.
2 citations
,
September 2008 in “Fertility and Sterility” This study observed that adult offspring of sperm donation generally feel positive about their conception method and believe identifying information about donors should be accessible.
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
1 citations
,
July 2021 in “International Journal of Cosmetics and Dermatology” In this study, 26.66% of vitiligo patients had a familial occurrence, indicating that genetic variations significantly contribute to the disease's etiology.
1 citations
,
March 2023 in “International journal of rheumatic diseases” This study observed that first-degree relatives of SLE patients display unique clinical and immunological profiles, showing elevated ANA titers and specific autoantibody patterns compared to healthy individuals.
9 citations
,
January 1997 in “Endocrine Journal” This study found a significant association between patients' sex of rearing and external genitalia in those with gonadal dysgenesis, while noting lower testosterone levels compared to controls.
August 2025 in “Annals of the Rheumatic Diseases” This study observed that the relationships between various criteria used to classify systemic lupus erythematosus are more consistent with chance than predictable patterns, although connections within the same organ domain are relevant.
12 citations
,
May 2019 in “Stem cell reviews” In this study, fetal stem cells were identified in adult human hair follicles long after childbirth, indicating potential for autologous therapies due to their pluripotent characteristics.
17 citations
,
October 2001 in “British Journal of Ophthalmology” This report highlights a case where intralesional cidofovir successfully treated squamous cell carcinoma without systemic toxicity, suggesting it may be a viable alternative to surgical excision.
3 citations
,
June 2017 in “Reproductive biomedicine online” In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.
101 citations
,
November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
50 citations
,
February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
5 citations
,
September 2011 in “Pediatric Dermatology” This case report describes androgenetic alopecia in two young siblings, highlighting its occurrence in children and suggesting a possible familial pattern given their mother's similar condition.
May 2022 in “Clinical Epigenetics” This study found that maternal early-pregnancy serum ferritin concentrations were associated with lower DNA methylation levels at specific CpG sites in cord blood, with some associations persisting into childhood.
March 2026 in “Sexual Development” This study found that a young male Maine Coon cat with a tortoiseshell coat, which typically indicates unusual sex chromosomes, was fertile, carrying both XX and XY cell lines. The researchers recommend genetic testing for tri-colored male cats before breeding decisions.
20 citations
,
January 2014 in “International Journal of Trichology” This study found that early onset androgenetic alopecia in young Asian Indian Gujarati men is independently associated with an increased risk of coronary artery disease.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” This study describes a family with loose anagen hair syndrome associated with macular dystrophy, suggesting this combination may represent a new disease entity among ectodermal dysplasias.
15 citations
,
February 2021 in “Cells” This study concluded that using human umbilical cord blood mononuclear cells transfected with VEGF and FGF2 genes enhances skin wound healing in rats, demonstrating greater wound revascularization compared to controls.