research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
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research PREVALANCE OF POLYCYSTIC OVARY SYNDROME (PCOS) AND ITS PHENOTYPES: A CLINICAL ANALYSIS IN SWABI
About 26% of women in Swabi have PCOS, with hyperandrogenism being the most common symptom.
research 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes
Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
research UTX (KDM6A) promotes differentiation noncatalytically in somatic self-renewing epithelia
UTX is crucial for skin differentiation and health, especially in females.
research The IVIG treatment response in autoimmune polyendocrine syndromes type 2 with anti-GAD65 antibody-associated stiff person syndrome: a case report and literature review
IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research 237 Unveiling Skin Cancers Pathophysiology via the Modeling of Xeroderma Pigmentosum Disease Modeling Using CRISPR-Cas9 Technology
Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
research Differential expression of keratin and keratin associated proteins are linked with hair loss condition in spontaneously mutated inbred mice
Abnormal gene expression related to keratin causes hair loss in certain mice.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare disorder characterized by liver dysfunction, hypotonia, developmental delay, coarse hair, and dysmorphic features. This report describes the fifth and sixth cases of THNS from Saudi Arabia, both presenting with these symptoms. Genetic analysis revealed pathogenic variants in the CCDC47 gene: a homozygous variant in Case 1 and two heterozygous variants in Case 2, confirmed to be in trans phase through parental testing. These findings contribute to a stronger gene-disease association and help clarify the clinical phenotype and mutational spectrum of THNS.
research Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
research 090 Reactive lipids from the secretome of senescent fibroblasts modify the extracellular matrix with functional consequences for resident cells
Reactive lipids from aging cells change the extracellular matrix, affecting cell function and inflammation.
research 371 Hair follicles are critical modulators of skin barrier function
Hair follicles are crucial for maintaining skin barrier function.
research LB1059 Neuromediators associated with neurogenic skin inflammation promote M2 differentiation of macrophages in human skin ex vivo
Certain substances can help skin cells become anti-inflammatory, aiding in tissue repair.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa
Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research eLife assessment: CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
research Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
research Reviewer #3 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Dermal white adipose tissue development and metabolism: The role of transcription factor Foxn1
Foxn1 is important for fat development, metabolism, and wound healing in skin.
research Stabilization of epithelial β-catenin compromises mammary cell fate acquisition and branching morphogenesis
Too much β-catenin activity can mess up the development of mammary glands and make them more like hair follicles.
research Effect of injectable calcium alginate-amelogenin hydrogel on macrophage polarization and promotion of jaw bone osteogenesis
The hydrogel helps bone growth and healing in jaw and facial defects.
research Characterizing enteric neurons in Dopamine Transporter (DAT)-Cre reporter mice reveals dopaminergic subtypes with dual-transmitter content
Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
research Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs
Genes related to calcium signaling and lipid metabolism are important for curly hair in Mangalitza pigs.
research 1433 Epithelially derived, mitochondrial MPZL3 negatively regulates murine and human hair follicle cycling
A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.
research 1440 DNA dioxygenases Tet2/3 regulate gene promoter accessibility and chromatin topology in lineage-specific loci to control keratinocyte differentiation and hair growth
Tet2 and Tet3 enzymes are important for controlling hair growth and shape by affecting gene activity and DNA structure in hair follicles.
research 361 p120-catenin regulates epidermal inflammation in a cadherin-dependent manner
p120-catenin helps control skin inflammation by regulating cadherin levels.
research Pattern hair loss distribution: a novel presentation for alopecia areata
Tofacitinib helped regrow hair in a teen with a unique pattern of alopecia areata.