research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
Search
for
Did you mean Truncated Protein?
Sort by
Research
30 / 951 results
research Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation
The HR protein's role as a repressor is essential for controlling hair growth.
research Interactions of the Vitamin D Receptor with the Corepressor Hairless
Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
research Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function
Hairless protein helps control hair growth by regulating vitamin D receptor activity.
research Hairless is a nuclear receptor corepressor essential for skin function
Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
research Physical and Functional Interaction between the Vitamin D Receptor and Hairless Corepressor, Two Proteins Required for Hair Cycling
Vitamin D receptor and hairless protein are essential for hair growth.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Deletion of Deoxyribonucleic Acid Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D
Removing part of the vitamin D receptor stops vitamin D from working properly.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Vitamin D and the skin: Physiology and pathophysiology
Vitamin D and its receptor regulate skin functions like cell growth, immunity, hair cycle, and tumor prevention.
research Lymphoid Enhancer-binding Factor-1 (LEF1) Interacts with the DNA-binding Domain of the Vitamin D Receptor
LEF1 interacts with Vitamin D Receptor, affecting hair follicle regeneration and this could be linked to hair loss conditions.
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 Cloning of a Functional Vitamin D Receptor from the Lamprey (Petromyzon marinus), an Ancient Vertebrate Lacking a Calcified Skeleton and Teeth
Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
research Vitamin D Receptor: New Assignments for an Already Busy Receptor
The vitamin D receptor is involved in multiple body functions beyond calcium regulation, including immune response and rapid reactions not related to gene activity.
research Minireview: vitamin D receptor: new assignments for an already busy receptor. - eScholarship
The vitamin D receptor has many roles in the body beyond managing calcium, affecting the immune system, hair growth, muscles, fat, bone marrow, and cancer cells.
research Mesenchymal–epithelial interactions during hair follicle morphogenesis and cycling
The conclusion is that certain cell interactions and signals are crucial for hair growth and regeneration.
research Dynamic Signals for Hair Follicle Development and Regeneration
Certain signals and genes play a key role in hair growth and regeneration, and understanding these could lead to new treatments for skin regeneration.
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 Vitamin D metabolism and function in the skin
Skin cells produce and activate vitamin D, which regulates skin functions and supports hair growth.
research Cell death in the skin
Understanding how cells die in the skin is important for treating skin diseases and preventing hair loss.
research Molecular Genetic and Endocrine Mechanisms of Hair Growth
Hormones and their receptors, especially androgens, play a key role in hair growth and disorders like baldness.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Vitamin D Receptor Gene Polymorphism In Chronic Telogen Effluvium; A Case-Control Study
Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
research Role of vitamin D and calcium signaling in epidermal wound healing
Vitamin D and calcium are important for quick and effective skin wound healing.