research Hoxc13 polyglycine repeat gain-of-function drives mammalian integument evolution by altering targeted genes and interactions
The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
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research Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures
Understanding embryologic layers improves skin disorder diagnosis and supports developing targeted therapies.
research Farmácia dos Clérigos - Porto e nos Serviços Farmacêuticos da University College Hospital - Londres, Reino Unido, ao abrigo do programa Erasmus+
Pharmacists play a crucial role in improving patient outcomes through personalized care and staying updated with scientific advancements.
research Progress on genome-wide association studies and selection signature analysis for agronomic traits in Chinese sheep and goats: review
Key genes linked to important traits in Chinese sheep and goats have been identified, but challenges remain in breeding improvements.
research Reviewer #1 (Public review): Mesenchymal Meis2 controls whisker development independently from trigeminal sensory innervation
Whiskers can form without sensory nerves or Foxd1, thanks to Meis2 in mesenchymal cells.
research Yin and yang of hair cells
Activin A increases inner ear hair cell development, while follistatin decreases it.
research COMPARATIVE ANALYSIS OF MAJOR AND TRACE ELEMENT CONTENT IN THE HAIR OF CHILDREN WITH DOWN SYNDROME AND OBESITY
Hair analysis may help monitor health in children with Down syndrome and obesity.
research Iron-Deficiency Anemia During Childhood
Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.
research Role of peptide growth factors in the rhythm of change hair
Growth factors influence hair growth and hair loss.
research Lab Quality Management and Methodology
Men with early balding should be checked for metabolic syndrome, as there's a link between the two.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research INNOVATIVE THERAPIES IN REGENERATIVE MEDICINE AND TRANSPLANTATION
DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Herpes Zoster Precipitating First Attack of Neuromyelitis Optica along with Perinuclear Anti-Neutrophilic Cytoplasmic Antibody Positive Vasculitis
A woman's shingles infection triggered her first episode of a rare neurological disorder and blood vessel inflammation.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Delayed Puberty
Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
research Alopecia areata in Down syndrome: a clinical evaluation
People with Down syndrome are more likely to have alopecia areata and need regular skin check-ups.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Possible Role of Osteopathic Manipulation Treatment in Alleviation of Finasteride-Induced Dementia through Modulation of HOMER-3 Gene Methylation
Osteopathic manipulation therapy might help treat dementia caused by finasteride.
research Identificación de la variación molecular y genética subyacente a las enfermedades de la piel
Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research Delayed Puberty
Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
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 Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Dermatopathia pigmentosa reticularis: A report of a case with delayed onset alopecia and onychodystrophy
DPR can cause skin, hair, and nail issues, sometimes appearing later in life.