scholarly journals NIPAL4/IchthyinIs Expressed in the Granular Layer of Human Epidermis and Mutated in Two Pakistani Families with Autosomal Recessive Ichthyosis

Dermatology ◽  
2010 ◽  
Vol 220 (1) ◽  
pp. 8-14 ◽  
Author(s):  
Muhammad Wajid ◽  
Mazen Kurban ◽  
Yutaka Shimomura ◽  
Angela M. Christiano
Keyword(s):  
Autosomal Recessive ◽  
Granular Layer ◽  
Human Epidermis ◽  
Pakistani Families ◽  
Recessive Ichthyosis

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency

2018 ◽  
Vol 93 (6) ◽  
pp. 1252-1253 ◽  
Author(s):  
D. Monies ◽  
J. Anabrees ◽  
N. Ibrahim ◽  
H. Elbardisy ◽  
M. Abouelhoda ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Ichthyosis

Biallelic mutations in the LPAR 6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families

2019 ◽  
Vol 58 (8) ◽  
pp. 946-952 ◽  
Author(s):  
Ghulam M. Khan ◽  
Noor Hassan ◽  
Niamatullah Khan ◽  
Muhammad Humayun ◽  
Kafaitullah Khan ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Biallelic Mutations ◽  
Pakistani Families

Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly

2009 ◽  
Vol 25 (6) ◽  
pp. 715-720 ◽  
Author(s):  
Rizwana Kousar ◽  
Hira Nawaz ◽  
Maryam Khurshid ◽  
Ghazanfer Ali ◽  
Saad Ullah Khan ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Primary Microcephaly ◽  
Autosomal Recessive Primary Microcephaly ◽  
Pakistani Families

Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene

Neurogenetics ◽  
2006 ◽  
Vol 7 (2) ◽  
pp. 105-110 ◽  
Author(s):  
Asma Gul ◽  
Muhammad Jawad Hassan ◽  
Saqib Mahmood ◽  
Wenje Chen ◽  
Safa Rahmani ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Sequence Variants ◽  
Primary Microcephaly ◽  
Genetic Studies ◽  
Autosomal Recessive Primary Microcephaly ◽  
Pakistani Families

scholarly journals Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

2007 ◽  
Vol 80 (3) ◽  
pp. 467-477 ◽  
Author(s):  
Lina Basel-Vanagaite ◽  
Revital Attia ◽  
Akemi Ishida-Yamamoto ◽  
Limor Rainshtein ◽  
Dan Ben Amitai ◽  
...  
Keyword(s):  
Serine Protease ◽  
Autosomal Recessive ◽  
Type Ii ◽  
Transmembrane Serine Protease ◽  
Recessive Ichthyosis

Mutations in βB3-Crystallin Associated with Autosomal Recessive Cataract in Two Pakistani Families

2005 ◽  
Vol 46 (6) ◽  
pp. 2100 ◽  
Author(s):  
S. Amer Riazuddin ◽  
Afshan Yasmeen ◽  
Wenliang Yao ◽  
Yuri V. Sergeev ◽  
Qingjiong Zhang ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Pakistani Families

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

2019 ◽  
Vol 182 (3) ◽  
pp. 729-737 ◽  
Author(s):  
J.K. Simpson ◽  
M. Martinez‐Queipo ◽  
A. Onoufriadis ◽  
S. Tso ◽  
E. Glass ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Recessive Ichthyosis

Trichohyalin: Presence in the Granular Layer and Stratum Corneum of Normal Human Epidermis

1991 ◽  
Vol 96 (5) ◽  
pp. 666-672 ◽  
Author(s):  
Elizabeth H. Hamilton ◽  
Richard E. Payne ◽  
Edward J. O'keefe
Keyword(s):  
Stratum Corneum ◽  
Granular Layer ◽  
Human Epidermis ◽  
Normal Human
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