research Comparative Genomics of the Keratin-Associated Protein Gene Clusters in Human, Chimpanzee, and Baboon
KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.
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research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Deletion of the MAD2L1 Spindle Assembly Checkpoint Gene Is Tolerated in Mouse Models of Acute T-Cell Lymphoma and Hepatocellular Carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research A Case of Ophiasis Type of Alopecia Areata in a Patient with Ring Chromosome 18 Syndrome
A patient with a rare chromosome condition also had a rare type of hair loss.
research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research An Adolescent Girl Presenting With Primary Amenorrhea: A Case Report of Complete Androgen Insensitivity Syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Secondary Cicatricial and Other Permanent Alopecias
The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
research Eruptive Syringomas in Down’s Syndrome
People with Down's syndrome are more likely to have syringomas.
research Two Parietal Cephaloceles In A Female Neonate
A baby girl had two brain-related growths removed and is developing normally.
research Increased Copy Number of the TERT and TERC Telomerase Subunit Genes in Cancer Cells
Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
research Wool Keratin-Associated Protein Genes in Sheep: A Review
Understanding wool keratin-associated proteins in sheep can help improve wool quality through selective breeding.
research New Familial Association Between Ocular Coloboma and Loose Anagen Syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Human-Derived Immortalized Dermal Papilla Cells With Constant Expression of Androgen Receptor
Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.
research Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Nosocomial Intravascular Catheter Infections with Extended-Spectrum Beta-Lactamase-Producing Escherichia Coli in Calves After Strain Introduction from a Commercial Herd
A hospital outbreak of catheter infections in calves was caused by a bacteria from a beef herd, leading to longer hospital stays, more drug use, and calf deaths.
research Poikiloderma Congenital: An Early Case of Rothmund-Thomson Syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Combinatorial Expression of Cell Cycle Regulators Is More Suitable for Immortalization Than Oncogenic Methods in Dermal Papilla Cells
Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.
research Comment on: The Gabrin Sign
The document suggests that more research is needed to confirm if baldness can indicate a higher risk of severe COVID-19 in men.
research Fetal Alpha 5-Reductase Val89Leu Mutation Is Associated With Late Miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
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 A 14-Year-Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research The Functional Relevance of the Type 1 Cytokines IFN-γ and IL-2 in Alopecia Areata of C3H/HeJ Mice
IFN-γ and IL-2 are important for T cell activation in hair loss in mice.
research Rheumatoid Arthritis and Gouty Arthritis in an Adult Patient with Down's Syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research Improving Human Forensics Through Advances in Genetics, Genomics, and Molecular Biology
DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
research The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases
The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
research Sex Differences in the Hypothalamic–Pituitary–Adrenal Axis’ Response to Stress: An Important Role for Gonadal Hormones
Male and female bodies respond differently to stress, influenced by hormones and development stages, with implications for stress-related diseases.
research The PDGF/PDGFR Pathway as a Drug Target
The PDGF/PDGFR pathway is a potential drug target with mixed success in treating various diseases, including some cancers and fibrosis.
research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.