research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
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330-360 / 1000+ resultsresearch SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Molecular heterogeneity of quiescent melanocyte stem cells revealed by single‐cell RNA‐sequencing
Different types of resting melanocyte stem cells have unique characteristics and vary in their potential to become other cells.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Hair Cortisol Measurements in the Evaluation of Cushing's Syndrome
Proximal hair cortisol is a reliable tool for diagnosing Cushing's Syndrome.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research Abstract 3372: Mouse keratinocyte side-population plays an important role during malignant progression to skin squamous cell carcinomas
Mouse skin cancer progression involves a unique group of cells marked by ABCG2 and MTS24.
research The Majority of Multipotent Epidermal Stem Cells Do Not Protect Their Genome by Asymmetrical Chromosome Segregation
Most hair follicle stem cells do not protect their DNA by dividing it unevenly.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Mouse Spermatogenesis Reflects the Unity and Diversity of Tissue Stem Cell Niche Systems
Mouse spermatogenesis shows that stem cells can behave flexibly and move widely in open environments.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Epithelial elements in superficial angiomyxomas: mimicry of adnexal development, and mesenchymal‐to‐epithelial transition
Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Deciphering gene regulatory programs in mouse embryonic skin through single-cell multiomics analysis
HT-scCAT-seq helps understand gene regulation in embryonic skin development.
research Merkel cell differentiation in trichoblastoma
Trichoblastomas may mimic fetal skin development by having many Merkel cells, unlike adult skin.
research 875 Clinical, Histologic and Immunohistochemical Characterization of Mixed Epithelial and Stromal Tumor of the Seminal Vesicle: A Systematic Review and a Novel Case Report
MESTSV is a rare tumor that is mostly benign but needs long-term monitoring due to potential recurrence.
research 489 Seborrhea-like dermatitis phenotype in the Mpzl3 knockout mice
MPZL3 is crucial for seborrheic dermatitis development.
research Defining compartmentalized stem cell populations with distinct cell division dynamics in the ocular surface epithelium
Stem cells in the eye have different roles and behaviors, helping maintain and repair the eye's surface.
research Single-Cell Transcriptomics to Map Cellular Heterogeneity in Tissue Regeneration Models
Single-cell transcriptomics reveals detailed cellular diversity and key pathways in tissue regeneration.
research Defective trophoblast function in mice with a targeted mutation of Ets2
Ets2 gene is crucial for placental development in mice.
research A single type of progenitor cell maintains normal epidermis
One type of progenitor cell can maintain normal skin in mice.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.