research Inducible Deletion of Epidermal Dicer and Drosha Reveals Multiple Functions for miRNAs in Postnatal Skin
Drosha and Dicer are essential for hair follicle health and preventing DNA damage in skin cells.
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research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Tissue Regenerative Delays and Synthetic Lethality in Adult Mice After Combined Deletion of ATR and TRP53
Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Fatal Autoimmunity Results from the Conditional Deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research P63 Targeted Deletion Under the FOXN1 Promoter Disrupts Pre- and Post-Natal Thymus Development, Function, and Maintenance, and Induces Severe Hair Loss
Deleting the p63 gene in certain cells causes problems in thymus development and severe hair loss in mice.
research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Selection Signatures in Goats Reveal a Novel Deletion Mutant Underlying Cashmere Yield and Diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research Lipoatrophy and Severe Metabolic Disturbance in Mice with Fat-Specific Deletion of PPARγ
Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
research The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Recent Advances in the Molecular Mechanisms Determining Tissue Sensitivity to Glucocorticoids: Novel Mutations, Circadian Rhythm, and Ligand-Induced Repression of the Human Glucocorticoid Receptor
New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
research An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
research Clinical Case Notes: Retinoblastoma, Microphthalmia, and Chromosome 13q Deletion Syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis
Mice without certain skin proteins had abnormal skin and hair development.
research KATP Channels in Zebrafish Cardiovascular System: A Model to Study Cantú Syndrome
Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
research Mesenchymal Cell Specific Deletion of TSC2 Regulates Hair Follicle Development and Patterning
TSC2 is crucial for proper hair follicle development and patterning.
research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research A Missense Mutation in Lama3 Causes Androgen Alopecia
A gene mutation in Lama3 is linked to a common type of hair loss.
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 Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Regulatory Mutations in TBX3 Disrupt Asymmetric Hair Pigmentation That Underlies Dun Camouflage Color in Horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.