24 citations
,
May 2012 in “International Journal of Dermatology” This review discusses the various causes and associations of eyelash trichomegaly, including congenital syndromes, acquired conditions, and drug effects, without reporting new clinical results.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
18 citations
,
December 2006 in “Clinical dysmorphology” This article reviews the case of a 2-year-old boy with rhombencephalosynapsis and considers its potential links to Gomez–López-Hernández syndrome, suggesting further research into its genetic causes; no new clinical results are reported.
17 citations
,
August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.
13 citations
,
September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.
10 citations
,
February 2015 in “Clinics in Dermatology” This article discusses various periocular conditions like madarosis, milphosis, trichomegaly, and dermatochalasis, and highlights their potential link to underlying local and systemic diseases, but reports no new clinical findings.
10 citations
,
February 2011 in “Journal der Deutschen Dermatologischen Gesellschaft” This article reviews structured management strategies for diagnosing and treating hair and scalp disorders, offering clinical guidelines and emphasizing the importance of psychosomatic care and patient-therapist communication.
9 citations
,
August 2013 in “Middle East Fertility Society Journal” This study found that the hospital-based prevalence of polycystic ovarian syndrome among Omani women of reproductive age was 2.8%, similar to rates reported in other countries.
8 citations
,
June 2019 in “Orphanet journal of rare diseases” This review of 64 published cases of Satoyoshi syndrome from 1967 to 2018 reports that corticosteroids were the most widely used and effective treatment, improving symptoms in most cases, while muscle relaxants like dantrolene primarily benefited muscle symptoms without affecting other symptoms.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study reports a novel TRbeta gene mutation associated with resistance to thyroid hormone syndrome, which may contribute to various forms of alopecia in the affected family members.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
7 citations
,
November 2000 in “Clinics in Dermatology” In this study, pediatric patients with overt polyautoimmunity frequently had systemic lupus erythematosus as an index disease, with clustering patterns revealing familial influence on autoimmune disease aggregation.
6 citations
,
November 2022 in “Forensic Science Medicine and Pathology” This study demonstrated that genetic markers can predict human ear morphology with moderate to good accuracy, potentially aiding forensic identification in crime scene investigations where traditional DNA matches are unavailable.
6 citations
,
October 2020 in “Endocrine journal” This case report identifies two specific mutations in the WRN gene in a 40-year-old female with Werner syndrome, highlighting the need for awareness of its early manifestations and treatment options.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
6 citations
,
January 2013 in “Case reports in endocrinology” This article reviews acromegaloid facial appearance syndrome and presents a case in a 57-year-old woman, emphasizing the need for more cases to understand its clinical features and inheritance patterns.
5 citations
,
June 2022 in “Frontiers in veterinary science” This review discusses the impact of sarcoptic mange on wombats and evaluates antiparasitic drugs like ivermectin, moxidectin, and fluralaner for treating the disease, but it presents no new clinical results.
5 citations
,
January 2018 in “Acta Dermatovenerologica Alpina Pannonica et Adriatica” This case study highlights congenital atrichia with papular lesions as a cause of total body hair loss, characterized by the absence of hair follicles and the presence of skin-colored papules.
4 citations
,
December 2020 in “Dermatologic Therapy” This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.
4 citations
,
May 2020 in “Cureus” This case report describes an adult male from India with Werner's syndrome due to a novel homozygous mutation in the WRN gene, characterized by several premature aging symptoms.
4 citations
,
August 2017 in “The Nurse Practitioner” This article discusses the systematic diagnostic evaluation of secondary amenorrhea and provides guidance for referral considerations; it reports no new research findings.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
4 citations
,
January 2011 in “Annals of Dermatology” This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.
3 citations
,
September 2024 in “Frontiers in Bioscience-Scholar” This study reported that Pantaneiro sheep from the Pantanal region of Brazil exhibit greater genetic variability and adaptability compared to the commercial Texel breed, highlighting their potential for further research and importance in Brazilian sheep farming.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
3 citations
,
May 2019 in “BMJ case reports” This report describes a rare case of severe combined immunodeficiency caused by a FOXN1 gene variant, complicated by Epstein-Barr virus infection and high-grade B-cell lymphoma, leading to the infant's death despite treatment efforts.
3 citations
,
May 2015 in “Journal of The American Academy of Dermatology” Adalimumab significantly improves quality of life for patients with moderate to severe hidradenitis suppurativa.