research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
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870-900 / 1000+ resultsresearch Identification and dissection of an enhancer controlling epithelial gene expression in skin
A specific DNA region controls skin cell gene expression by working with certain proteins.
research An unusual case of quadruple polyorchidism in a human cadaver mimicking bilateral lipoma
A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Quantitative image analysis for hereditary hair disorders
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research Paired Ear Creases of the Helix (PECH): A Possible Physical Sign
Ear creases might indicate heart disease risk, needing more research.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research FOXE1, A New Transcriptional Target of GLI2 Is Expressed in Human Epidermis and Basal Cell Carcinoma
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research cDermo-1 misexpression induces dense dermis, feathers, and scales
cDermo-1 causes dense skin, feathers, and scales in chickens.
research Erosive Pustular Dermatosis of the Scalp Mimicking Squamous Cell Carcinoma: Can Dermoscopy Be Helpful?
Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
research Autotaxin–lysophosphatidic acid– LPA 3 signaling at the embryo‐epithelial boundary controls decidualization pathways
LPA3 signaling in the uterus is crucial for placental formation and fetal development.
research In situ detection of retinoid-X receptor expression in normal and psoriatic human skin
RXR-alpha is strongly expressed in both normal and psoriatic skin and may help in skin cell differentiation and hair growth.
research Expression of Desmoglein 1 Compensates for Genetic Loss of Desmoglein 3 in Keratinocyte Adhesion
Desmoglein 1 can partly make up for the loss of Desmoglein 3 in hair adhesion but not in mucous membranes.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Disorders in Male Sexual Differentiation Due to 5α-Reductase-2 Deficiency
5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
research LB1053 Dysregulation of antioxidant enzyme PRDX5 in alopecia areata
PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
research Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
research More about X‐linked testicular feminization of the mouse as a noninducible (is) mutation of a regulatory locus: 5α‐androstan‐3α‐17ß‐diol as the true inducer of kidney alcohol dehydrogenase and ß‐glucuronidase
A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
research A Case of pretibial myxedema with hyperthyroidism
The man had pretibial myxedema and hyperthyroidism, causing skin changes and thyroid issues.
research Miscellaneous Exosome Trials
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
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 Expression of retinoid-X receptors (-Æ,-a,-a) and retinoic acid receptors (-Æ,-a,-a) in normal human skin: an immunohistological evaluation
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
research The articulations of Adam's rib with the lower urinary tract
The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.