research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
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120-150 / 1000+ resultsresearch Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research Lichen Planus Pigmentosus as a Cutaneous Extrahepatic Manifestation of Chronic Hepatitis C Virus Infection: A Case Report
Lichen planus pigmentosus may indicate undetected hepatitis C infection.
research Signs of some hematological diseases with the help of monoclonal antibodies LT-1, LT-2, LT-7
Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Structure and Expression of a New Complementary DNA Encoding the almost Exclusive 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4-lsomerase in Human Adrenals and Gonads
Human adrenals and gonads have a unique enzyme for steroid hormone production.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Low level laser therapy in hair loss
Low level laser therapy may help with hair loss.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Low-level light therapy using a helmet-type device for the treatment of androgenetic alopecia
Helmet-like device safely increases hair density for people with hair loss.
research 10.51847/1z2Yt2O
SFE is a better extraction method, and the HPTLC method is effective for analyzing wedelolactone in E. alba.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research CRYSTAL STRUCTURE OF HSIANGHUALITE
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research A Systematic Review and Meta-analysis of Randomized Controlled Trials of United States Food and Drug Administration-Approved, Home-use, Low-Level Light/Laser Therapy Devices for Pattern Hair Loss: Device Design and Technology.
FDA-approved low-level light/laser therapy devices can significantly increase hair density in people with pattern hair loss.
research The Hair Cell Analysis Toolbox: A machine learning-based whole cochlea analysis pipeline
The Hair Cell Analysis Toolbox automates and improves the analysis of cochlear hair cells using machine learning.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Hydrochlorothiazide/indometacin
A woman developed lupus after taking hydroxyurea for two years.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research DESIGN OF A VALIDATED HPTLC METHODOLOGY FOR THE MEASUREMENT OF LINOLEIC AND OLEANOLIC ACID IN ECLIPTA ALBA
The HPTLC method is effective and accurate for measuring linoleic and oleanolic acid in Eclipta alba.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research Lithium chloride promotes the odontoblast differentiation of hair follicle neural crest cells by activating Wnt/β‐catenin signaling
Lithium chloride helps hair follicle cells become tooth cells by activating a specific signaling pathway.