research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
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research Scalp whorls
Abnormal scalp whorls can indicate brain development issues but may also be seen in neurologically normal people.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research Practical Management of Hidradenitis Suppurativa
Early diagnosis and treatment of Hidradenitis Suppurativa are important to prevent serious physical and mental effects.
research Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice
A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Open questions in hidradenitis suppurativa research: a hair biologist's perspective
The conclusion suggests that early signs of hidradenitis suppurativa may start in the hair follicle, with genetic and immune factors playing a role, highlighting the need for more research on the hair follicle's immune system.
research Receptor tyrosine kinase Kit action in skin melanocytes: is it exclusively cell autonomous?
KIT's role in skin cells is not entirely independent, as other cells can influence its function.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability”
TRPV3 could be a target for treating pain, skin disorders, and hair problems, but more research is needed to create effective drugs.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Book Reviews
The document recommends several books on cosmetic surgery and complementary medicine, highlighting their detailed methods, multidisciplinary approaches, and valuable treatment insights.
research A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer
New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
research 520 Body site heterogeneity and microbial diversity is lost in individuals with hidradenitis suppurativa
People with Hidradenitis Suppurativa have less diverse skin bacteria and different bacterial metabolism than healthy individuals.
research Aplikasi Konsep Difraksi dalam Bidang Kesehatan
Light diffraction helps in eye surgery, brain treatments, and detecting hair loss and genetic diseases.
research HAIR AND SYSTEMATIC DISEASE
Hair loss can indicate underlying systemic diseases and addressing these can sometimes reverse the hair loss.
research AN UPDATE OF HAIR SHAFT DISORDERS
Advances in genetics may lead to targeted treatments for hair disorders.
research Advances in molecular pathogenesis of hidradenitis suppurativa: Dysregulated keratins and ECM signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research ABC of Dermatology: Diseases of the hair and scalp
The document explains different hair and scalp conditions, including common hair loss after pregnancy or illness, drug-induced hair loss, hereditary excessive hair growth, patterned baldness, autoimmune hair loss, and permanent loss due to skin disease, with generally limited treatment options.
research 329 Mechanisms of Cutaneous Adverse Events during Targeted Cancer Therapy
Targeted cancer therapies can cause skin side effects, but activating SOS in the skin may help reduce them.
research Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Primary Follicular Dystrophy With Scarring Dermatitis in C57BL/6 Mouse Substrains Resembles Central Centrifugal Cicatricial Alopecia in Humans
Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
research Inherited Hair Disorders
Genetic hair disorders can indicate other hidden health problems.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Diagnostic imaging in congenital adrenal hyperplasia – how does it help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.