research Transcriptomic Analysis Reveals Critical Genes for the Hair Follicle of Inner Mongolia Cashmere Goat from Catagen to Telogen
Key genes regulate hair follicle phase changes in Inner Mongolia cashmere goats.
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research Copy Number Variation Regions in Nellore Cattle: Evidence of Environmental Adaptation
Nellore cattle have genetic variations linked to their adaptation to tropical environments.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Variant 1859G→A (Arg620Gln) of the Hairless Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
Haplogroup X found in Altaian population supports Amerindian origin.
research Adam10 Haploinsufficiency Causes Freckle-Like Macules in Hairless Mice
A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
research Androgen Receptor Activation Integrates Complex Transcriptional Effects in Osteoblasts, Involving the Growth Factors TGF-β and IGF-I, and Transcription Factor C/EBPδ
DHT affects bone growth by altering gene activity in osteoblasts, potentially complicating steroid use.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Efficient Genome Editing Using CRISPR/Cas9 Ribonucleoprotein Approach in iPS Cells for Recessive Dystrophic Epidermolysis Bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research A Rare Cause of Irrevocable Childhood Alopecia Feigning Alopecia Universalis: Atrichia Congenita With Papular Lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research The Androgen Excess and PCOS Society Criteria for the Polycystic Ovary Syndrome: The Complete Task Force Report
The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
research Prostaglandin D2 Inhibits Wound-Induced Hair Follicle Neogenesis Through the Receptor Gpr44
Prostaglandin D2 blocks new hair growth after skin injury through the Gpr44 receptor.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene
Researchers found a new mutation causing total hair loss from birth.
research Methods of Hair Loss Evaluation: A Comparison of TrichoScan with the Modified Wash Test
The modified wash test is better than TrichoScan® for diagnosing hair loss.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Genome-Wide Detection and Sequence Conservation Analysis of Long Non-Coding RNA During Hair Follicle Cycle of Yak
Researchers found that certain RNA sequences play a role in yak hair growth and these sequences are somewhat similar to those in cashmere goats.
research Role of Polymorphism of the Androgen Receptor Gene and Non-Random X Chromosome Inactivation in the Pathogenesis of Androgenic Alopecia
Certain genes and X chromosome patterns may significantly contribute to the development of hair loss.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research The Catalog of Human Hair Keratins
Human hair is made up of different keratins, some strong and some weak, with specific types appearing at various stages of hair growth.
research Molecular, Immunological, Enzymatic and Biochemical Studies of Coproporphyrinogen Oxidase Deficiency in a Family with Hereditary Coproporphyria
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
research Evolution of Trichocyte Keratins
Hair keratins evolved from ancient proteins, diversifying through gene changes, crucial for forming claws and later hair in mammals.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Detection of Circular RNA Expression and Related Quantitative Trait Loci in the Human Dorsolateral Prefrontal Cortex
Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
research The Retarded Hair Growth Mutation in Mice Is an Allele of Ornithine Aminotransferase
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.