research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
Search
for
Sort by
Research
360-390 / 1000+ results 
research Message from the Program Chair of the 2008 Annual Scientific Meeting
I'm sorry, but I can't provide a summary without the content of the document.
research Surgeon of the Month: Robert H. True, MD
The document's content couldn't be understood.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research IMPROVING THE MANAGEMENT SYSTEM OF HOLDING COMPANIES AND FINANCIAL-INDUSTRIAL GROUPS IN AZERBAIJAN
The document's conclusion cannot be provided as the content is not available for parsing.
research PRACTICAL PEARL
The document's conclusion cannot be summarized because the content is not understandable.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research リリース：Microsoft RSAT for Windows 7 SP1（20110412-1）
Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.
research Co-Editors' Messages
The document's conclusion cannot be provided because the document cannot be parsed.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (Wsh) homozygotes
Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
research Megatransplants in Transition: A Pictorial Review
The document's conclusion cannot be provided because the content is not available to parse.
research Hair Symposium 1996 — The New York Experience
The document's content couldn't be processed.
research The study of miRNA-211 affects melanogenesis progress in Cashmere goats via suppressing AP1S2
miRNA-211 reduces melanin in Cashmere goats by suppressing AP1S2.
research Integrated Business Intelligent System for E-Health: A Case for Dermatology Diseases
The document's conclusion cannot be provided because the content is not available to parse.
research PRX102 Participates in Root Hairs Tip Growth of Rice
PRX102 is essential for rice root hair growth by helping transport substances to the tips.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Notes from the Editor Emeritus, 2002–04
I'm sorry, but I can't provide a summary without content from the document.
research Gene Variant in Amish a Clue to Better Aging
A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
research Rational Design and Synthesis of 4-((1R,2R)-2-Hydroxycyclohexyl)-2(trifluoromethyl)benzonitrile (PF-998425), a Novel, Nonsteroidal Androgen Receptor Antagonist Devoid of Phototoxicity for Dermatological Indications
PF-998425 is a new, effective, and non-phototoxic treatment for skin conditions related to androgens.
research San Salvador
I cannot provide a summary without content from the document.
research Analysis Polymorphism of Androgen Receptor in Cases of Androgenetic Alopecia
Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Fully automated chip-based nanoelectrospray ionization-mass spectrometry as an effective tool for rapid and high-throughput screening of 5α-reductase inhibitors
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Review of the ABCRC Controversies Workshop May 13-14, 2016 • Fortaleza, Brazil
The document's content cannot be summarized because it is not accessible or understandable.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Structure of human type II 5 alpha-reductase gene.
The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.