research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
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research Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
research A retrospective study of thyroid hormone in Pediatrics: relationships with growth hormone correlation with effects of diabetes in Riyadh, Saudi Arabia
Thyroid hormone levels in children are linked to growth hormone and can be affected by diabetes in Riyadh, Saudi Arabia.
research 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 Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Spatial variation and associated genes of total hair follicle density in goats
Four genes affect hair follicle density in goats.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries
Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research Molecular studies of the Medicago truncatula MtAnn3 gene involved in root hair deformation
The MtAnn3 gene affects root hair growth and is influenced by cytokinin.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research The complex relationship between TFEB transcription factor phosphorylation and subcellular localization
Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Sex-Chromosome-Related Dimorphism in Steroidogenic Enzymes and Androgen Receptor in Response to Testosterone Treatment: An In Vitro Study on Human Primary Skeletal Muscle Cells
Chromosomal differences affect how muscle cells respond to testosterone.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
research Analysis of genome DNA methylation at inherited coat-color dilutions of Rex Rabbits
Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
research Molecular genetics of androgen insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research The molecular basis of human keratin disorders
research Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases
research Ectodysplasin-A (EDA) Signaling Cross-Talk in Skeletogenesis
The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
research Inhibitory amino acid transmitters associated with axons in presynaptic apposition to cutaneous primary afferent axons in the cat spinal cord
Presynaptic inhibition of certain nerve fibers in cats is mainly controlled by GABA and glycine.
research The role of functional variants in the aetiology of polycystic ovary syndrome
A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Relationships between hair-follicle afferent axons and glycine-immunoreactive profiles in cat spinal dorsal horn
Aδ-LTMRs have complex synapses with glycine, while Aβ-LTMRs have simpler ones.
research Unilateral Straight Hair—A Symptom of Acquired Horner's Syndrome in a Neonate
A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
research One Transgene: Two Outcomes
Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.